NM_001405607.1(PBRM1):c.1443+60T>G AND not provided
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 23, 2018
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV001661172.2
Allele description [Variation Report for NM_001405607.1(PBRM1):c.1443+60T>G]
NM_001405607.1(PBRM1):c.1443+60T>G
- Gene:
- PBRM1:polybromo 1 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 3p21.1
- Genomic location:
- Preferred name:
- NM_001405607.1(PBRM1):c.1443+60T>G
- HGVS:
- NC_000003.12:g.52628834A>C
- NG_032108.1:g.62017T>G
- NM_001350074.2:c.1506+60T>G
- NM_001350075.2:c.1443+60T>G
- NM_001350076.2:c.1506+60T>G
- NM_001350077.2:c.1497+60T>G
- NM_001350078.2:c.1506+60T>G
- NM_001350079.2:c.1506+60T>G
- NM_001366070.2:c.1506+60T>G
- NM_001366071.2:c.1506+60T>G
- NM_001366072.2:c.1506+60T>G
- NM_001366073.2:c.1497+60T>G
- NM_001366074.2:c.1494+60T>G
- NM_001366075.2:c.1506+60T>G
- NM_001366076.2:c.1401+60T>G
- NM_001394867.1:c.1443+60T>G
- NM_001394868.1:c.1443+60T>G
- NM_001394869.1:c.1443+60T>G
- NM_001394870.1:c.1497+60T>G
- NM_001394871.1:c.1443+60T>G
- NM_001394872.1:c.1443+60T>G
- NM_001394873.1:c.1443+60T>G
- NM_001394874.1:c.1443+60T>G
- NM_001394875.1:c.1443+60T>G
- NM_001394876.1:c.1443+60T>G
- NM_001394877.1:c.1443+60T>G
- NM_001394878.1:c.1407+60T>G
- NM_001394879.1:c.1347+60T>G
- NM_001400470.1:c.1443+60T>G
- NM_001400471.1:c.1443+60T>G
- NM_001400472.1:c.1464+60T>G
- NM_001400473.1:c.1443+60T>G
- NM_001400474.1:c.1443+60T>G
- NM_001400475.1:c.1443+60T>G
- NM_001400479.1:c.1443+60T>G
- NM_001400481.1:c.1443+60T>G
- NM_001400484.1:c.1443+60T>G
- NM_001400487.1:c.1347+60T>G
- NM_001400490.1:c.1443+60T>G
- NM_001400496.1:c.1443+60T>G
- NM_001400500.1:c.1443+60T>G
- NM_001400501.1:c.1443+60T>G
- NM_001400504.1:c.1443+60T>G
- NM_001405552.1:c.1545+60T>G
- NM_001405553.1:c.1506+60T>G
- NM_001405554.1:c.1551+60T>G
- NM_001405555.1:c.1443+60T>G
- NM_001405556.1:c.1443+60T>G
- NM_001405557.1:c.1443+60T>G
- NM_001405558.1:c.1443+60T>G
- NM_001405559.1:c.1443+60T>G
- NM_001405560.1:c.1344+60T>G
- NM_001405561.1:c.1443+60T>G
- NM_001405563.1:c.1443+60T>G
- NM_001405564.1:c.1470+60T>G
- NM_001405565.1:c.1443+60T>G
- NM_001405566.1:c.-540+60T>G
- NM_001405567.1:c.1443+60T>G
- NM_001405568.1:c.1470+60T>G
- NM_001405569.1:c.1470+60T>G
- NM_001405570.1:c.1443+60T>G
- NM_001405571.1:c.1443+60T>G
- NM_001405572.1:c.1347+60T>G
- NM_001405573.1:c.1257+60T>G
- NM_001405574.1:c.1497+60T>G
- NM_001405575.1:c.1443+60T>G
- NM_001405576.1:c.1443+60T>G
- NM_001405577.1:c.1443+60T>G
- NM_001405578.1:c.1443+60T>G
- NM_001405579.1:c.1443+60T>G
- NM_001405580.1:c.1470+60T>G
- NM_001405581.1:c.1443+60T>G
- NM_001405582.1:c.1347+60T>G
- NM_001405583.1:c.1443+60T>G
- NM_001405584.1:c.1443+60T>G
- NM_001405585.1:c.1443+60T>G
- NM_001405586.1:c.1470+60T>G
- NM_001405587.1:c.1299+60T>G
- NM_001405588.1:c.1443+60T>G
- NM_001405589.1:c.1443+60T>G
- NM_001405590.1:c.1443+60T>G
- NM_001405591.1:c.1497+60T>G
- NM_001405592.1:c.1443+60T>G
- NM_001405593.1:c.1443+60T>G
- NM_001405594.1:c.1443+60T>G
- NM_001405595.1:c.1374+60T>G
- NM_001405596.1:c.-540+60T>G
- NM_001405597.1:c.1326+60T>G
- NM_001405598.1:c.1470+60T>G
- NM_001405599.1:c.1347+60T>G
- NM_001405600.1:c.1497+60T>G
- NM_001405601.1:c.1443+60T>G
- NM_001405602.1:c.1347+60T>G
- NM_001405603.1:c.1443+60T>G
- NM_001405604.1:c.1347+60T>G
- NM_001405605.1:c.1443+60T>G
- NM_001405606.1:c.1347+60T>G
- NM_001405607.1:c.1443+60T>GMANE SELECT
- NM_001405608.1:c.306+60T>G
- NM_001405609.1:c.1443+60T>G
- NM_001405610.1:c.1443+60T>G
- NM_001405611.1:c.1443+60T>G
- NM_001405612.1:c.1443+60T>G
- NM_001405622.1:c.1506+60T>G
- NM_001405623.1:c.1443+60T>G
- NM_001405624.1:c.1443+60T>G
- NM_001405625.1:c.-140+60T>G
- NM_001405626.1:c.1443+60T>G
- NM_001405627.1:c.1443+60T>G
- NM_001405628.1:c.1443+60T>G
- NM_001405629.1:c.1443+60T>G
- NM_001405630.1:c.1443+60T>G
- NM_001405631.1:c.1443+60T>G
- NM_001405632.1:c.1443+60T>G
- NM_001405633.1:c.1443+60T>G
- NM_001405634.1:c.1443+60T>G
- NM_001405635.1:c.1443+60T>G
- NM_001405636.1:c.1470+60T>G
- NM_001405637.1:c.1461+60T>G
- NM_001405638.1:c.1347+60T>G
- NM_001405639.1:c.1443+60T>G
- NM_001405640.1:c.1443+60T>G
- NM_001405641.1:c.1443+60T>G
- NM_001405642.1:c.1344+60T>G
- NM_001405643.1:c.1443+60T>G
- NM_018313.5:c.1443+60T>G
- NM_181042.5:c.1443+60T>G
- NC_000003.11:g.52662850A>C
This HGVS expression did not pass validation- Links:
- dbSNP: rs57869735
- NCBI 1000 Genomes Browser:
- rs57869735
- Molecular consequence:
- NM_001350074.2:c.1506+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350075.2:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350076.2:c.1506+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350077.2:c.1497+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350078.2:c.1506+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350079.2:c.1506+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001366070.2:c.1506+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001366071.2:c.1506+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001366072.2:c.1506+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001366073.2:c.1497+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001366074.2:c.1494+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001366075.2:c.1506+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001366076.2:c.1401+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001394867.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001394868.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001394869.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001394870.1:c.1497+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001394871.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001394872.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001394873.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001394874.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001394875.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001394876.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001394877.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001394878.1:c.1407+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001394879.1:c.1347+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001400470.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001400471.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001400472.1:c.1464+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001400473.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001400474.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001400475.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001400479.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001400481.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001400484.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001400487.1:c.1347+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001400490.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001400496.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001400500.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001400501.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001400504.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405552.1:c.1545+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405553.1:c.1506+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405554.1:c.1551+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405555.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405556.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405557.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405558.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405559.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405560.1:c.1344+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405561.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405563.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405564.1:c.1470+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405565.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405566.1:c.-540+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405567.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405568.1:c.1470+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405569.1:c.1470+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405570.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405571.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405572.1:c.1347+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405573.1:c.1257+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405574.1:c.1497+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405575.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405576.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405577.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405578.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405579.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405580.1:c.1470+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405581.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405582.1:c.1347+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405583.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405584.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405585.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405586.1:c.1470+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405587.1:c.1299+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405588.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405589.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405590.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405591.1:c.1497+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405592.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405593.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405594.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405595.1:c.1374+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405596.1:c.-540+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405597.1:c.1326+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405598.1:c.1470+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405599.1:c.1347+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405600.1:c.1497+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405601.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405602.1:c.1347+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405603.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405604.1:c.1347+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405605.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405606.1:c.1347+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405607.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405608.1:c.306+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405609.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405610.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405611.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405612.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405622.1:c.1506+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405623.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405624.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405625.1:c.-140+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405626.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405627.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405628.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405629.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405630.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405631.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405632.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405633.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405634.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405635.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405636.1:c.1470+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405637.1:c.1461+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405638.1:c.1347+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405639.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405640.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405641.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405642.1:c.1344+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001405643.1:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_018313.5:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_181042.5:c.1443+60T>G - intron variant - [Sequence Ontology: SO:0001627]
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001874465 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification Process June 2021) | Benign (Jun 23, 2018) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From GeneDx, SCV001874465.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Dec 24, 2023