ClinVar Genomic variation as it relates to human health
NM_001405607.1(PBRM1):c.4901C>T (p.Ala1634Val)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001405607.1(PBRM1):c.4901C>T (p.Ala1634Val)
Variation ID: 135008 Accession: VCV000135008.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3p21.1 3: 52550462 (GRCh38) [ NCBI UCSC ] 3: 52584478 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jun 9, 2014 Jun 9, 2014 Sep 19, 2013 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001405607.1:c.4901C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001392536.1:p.Ala1634Val missense NM_001350074.2:c.4643C>T NP_001337003.1:p.Ala1548Val missense NM_001350075.2:c.4691C>T NP_001337004.1:p.Ala1564Val missense NM_001350076.2:c.4640C>T NP_001337005.1:p.Ala1547Val missense NM_001350077.2:c.4634C>T NP_001337006.1:p.Ala1545Val missense NM_001350078.2:c.4643C>T NP_001337007.1:p.Ala1548Val missense NM_001350079.2:c.4523C>T NP_001337008.1:p.Ala1508Val missense NM_001366070.2:c.4643C>T NP_001352999.1:p.Ala1548Val missense NM_001366071.2:c.4763C>T NP_001353000.1:p.Ala1588Val missense NM_001366072.2:c.4598C>T NP_001353001.1:p.Ala1533Val missense NM_001366073.2:c.4589C>T NP_001353002.1:p.Ala1530Val missense NM_001366074.2:c.4586C>T NP_001353003.1:p.Ala1529Val missense NM_001366075.2:c.4568C>T NP_001353004.1:p.Ala1523Val missense NM_001366076.2:c.4538C>T NP_001353005.1:p.Ala1513Val missense NM_001394867.1:c.4856C>T NP_001381796.1:p.Ala1619Val missense NM_001394868.1:c.4856C>T NP_001381797.1:p.Ala1619Val missense NM_001394869.1:c.4856C>T NP_001381798.1:p.Ala1619Val missense NM_001394870.1:c.4745C>T NP_001381799.1:p.Ala1582Val missense NM_001394871.1:c.4700C>T NP_001381800.1:p.Ala1567Val missense NM_001394872.1:c.4691C>T NP_001381801.1:p.Ala1564Val missense NM_001394873.1:c.4688C>T NP_001381802.1:p.Ala1563Val missense NM_001394874.1:c.4688C>T NP_001381803.1:p.Ala1563Val missense NM_001394875.1:c.4535C>T NP_001381804.1:p.Ala1512Val missense NM_001394876.1:c.4532C>T NP_001381805.1:p.Ala1511Val missense NM_001394877.1:c.4532C>T NP_001381806.1:p.Ala1511Val missense NM_001394878.1:c.4499C>T NP_001381807.1:p.Ala1500Val missense NM_001400470.1:c.4856C>T NP_001387399.1:p.Ala1619Val missense NM_001400471.1:c.4745C>T NP_001387400.1:p.Ala1582Val missense NM_001400472.1:c.4712C>T NP_001387401.1:p.Ala1571Val missense NM_001400473.1:c.4697C>T NP_001387402.1:p.Ala1566Val missense NM_001400474.1:c.4691C>T NP_001387403.1:p.Ala1564Val missense NM_001400475.1:c.4691C>T NP_001387404.1:p.Ala1564Val missense NM_001400479.1:c.4691C>T NP_001387408.1:p.Ala1564Val missense NM_001400481.1:c.4688C>T NP_001387410.1:p.Ala1563Val missense NM_001400484.1:c.4616C>T NP_001387413.1:p.Ala1539Val missense NM_001400487.1:c.4595C>T NP_001387416.1:p.Ala1532Val missense NM_001400490.1:c.4460C>T NP_001387419.1:p.Ala1487Val missense NM_001400496.1:c.4535C>T NP_001387425.1:p.Ala1512Val missense NM_001400500.1:c.4535C>T NP_001387429.1:p.Ala1512Val missense NM_001400501.1:c.4535C>T NP_001387430.1:p.Ala1512Val missense NM_001400504.1:c.4460C>T NP_001387433.1:p.Ala1487Val missense NM_001405552.1:c.4802C>T NP_001392481.1:p.Ala1601Val missense NM_001405553.1:c.4754C>T NP_001392482.1:p.Ala1585Val missense NM_001405554.1:c.4796C>T NP_001392483.1:p.Ala1599Val missense NM_001405555.1:c.4535C>T NP_001392484.1:p.Ala1512Val missense NM_001405556.1:c.4691C>T NP_001392485.1:p.Ala1564Val missense NM_001405557.1:c.4691C>T NP_001392486.1:p.Ala1564Val missense NM_001405558.1:c.4616C>T NP_001392487.1:p.Ala1539Val missense NM_001405559.1:c.4781C>T NP_001392488.1:p.Ala1594Val missense NM_001405560.1:c.4436C>T NP_001392489.1:p.Ala1479Val missense NM_001405561.1:c.4688C>T NP_001392490.1:p.Ala1563Val missense NM_001405563.1:c.4532C>T NP_001392492.1:p.Ala1511Val missense NM_001405564.1:c.4562C>T NP_001392493.1:p.Ala1521Val missense NM_001405565.1:c.4616C>T NP_001392494.1:p.Ala1539Val missense NM_001405566.1:c.2627C>T NP_001392495.1:p.Ala876Val missense NM_001405567.1:c.4853C>T NP_001392496.1:p.Ala1618Val missense NM_001405568.1:c.4718C>T NP_001392497.1:p.Ala1573Val missense NM_001405569.1:c.4715C>T NP_001392498.1:p.Ala1572Val missense NM_001405570.1:c.4862C>T NP_001392499.1:p.Ala1621Val missense NM_001405571.1:c.4736C>T NP_001392500.1:p.Ala1579Val missense NM_001405572.1:c.4517C>T NP_001392501.1:p.Ala1506Val missense NM_001405573.1:c.4502C>T NP_001392502.1:p.Ala1501Val missense NM_001405574.1:c.4742C>T NP_001392503.1:p.Ala1581Val missense NM_001405575.1:c.4688C>T NP_001392504.1:p.Ala1563Val missense NM_001405576.1:c.4457C>T NP_001392505.1:p.Ala1486Val missense NM_001405577.1:c.4535C>T NP_001392506.1:p.Ala1512Val missense NM_001405578.1:c.4688C>T NP_001392507.1:p.Ala1563Val missense NM_001405579.1:c.4697C>T NP_001392508.1:p.Ala1566Val missense NM_001405580.1:c.4481C>T NP_001392509.1:p.Ala1494Val missense NM_001405581.1:c.4856C>T NP_001392510.1:p.Ala1619Val missense NM_001405582.1:c.4595C>T NP_001392511.1:p.Ala1532Val missense NM_001405583.1:c.4700C>T NP_001392512.1:p.Ala1567Val missense NM_001405584.1:c.4700C>T NP_001392513.1:p.Ala1567Val missense NM_001405585.1:c.4688C>T NP_001392514.1:p.Ala1563Val missense NM_001405586.1:c.4640C>T NP_001392515.1:p.Ala1547Val missense NM_001405587.1:c.4547C>T NP_001392516.1:p.Ala1516Val missense NM_001405588.1:c.4781C>T NP_001392517.1:p.Ala1594Val missense NM_001405589.1:c.4853C>T NP_001392518.1:p.Ala1618Val missense NM_001405590.1:c.4688C>T NP_001392519.1:p.Ala1563Val missense NM_001405591.1:c.4670C>T NP_001392520.1:p.Ala1557Val missense NM_001405592.1:c.4460C>T NP_001392521.1:p.Ala1487Val missense NM_001405593.1:c.4535C>T NP_001392522.1:p.Ala1512Val missense NM_001405594.1:c.4856C>T NP_001392523.1:p.Ala1619Val missense NM_001405595.1:c.4622C>T NP_001392524.1:p.Ala1541Val missense NM_001405596.1:c.2783C>T NP_001392525.1:p.Ala928Val missense NM_001405597.1:c.4574C>T NP_001392526.1:p.Ala1525Val missense NM_001405598.1:c.4883C>T NP_001392527.1:p.Ala1628Val missense NM_001405599.1:c.4595C>T NP_001392528.1:p.Ala1532Val missense NM_001405600.1:c.4745C>T NP_001392529.1:p.Ala1582Val missense NM_001405601.1:c.4901C>T NP_001392530.1:p.Ala1634Val missense NM_001405602.1:c.4436C>T NP_001392531.1:p.Ala1479Val missense NM_001405603.1:c.4856C>T NP_001392532.1:p.Ala1619Val missense NM_001405604.1:c.4760C>T NP_001392533.1:p.Ala1587Val missense NM_001405605.1:c.4460C>T NP_001392534.1:p.Ala1487Val missense NM_001405606.1:c.4595C>T NP_001392535.1:p.Ala1532Val missense NM_001405608.1:c.3479C>T NP_001392537.1:p.Ala1160Val missense NM_001405609.1:c.4691C>T NP_001392538.1:p.Ala1564Val missense NM_001405622.1:c.4754C>T NP_001392551.1:p.Ala1585Val missense NM_001405623.1:c.4691C>T NP_001392552.1:p.Ala1564Val missense NM_001405624.1:c.4532C>T NP_001392553.1:p.Ala1511Val missense NM_001405625.1:c.3215C>T NP_001392554.1:p.Ala1072Val missense NM_001405626.1:c.4535C>T NP_001392555.1:p.Ala1512Val missense NM_001405627.1:c.4535C>T NP_001392556.1:p.Ala1512Val missense NM_001405628.1:c.4691C>T NP_001392557.1:p.Ala1564Val missense NM_001405629.1:c.4853C>T NP_001392558.1:p.Ala1618Val missense NM_001405630.1:c.4691C>T NP_001392559.1:p.Ala1564Val missense NM_001405631.1:c.4691C>T NP_001392560.1:p.Ala1564Val missense NM_001405632.1:c.4688C>T NP_001392561.1:p.Ala1563Val missense NM_001405633.1:c.4616C>T NP_001392562.1:p.Ala1539Val missense NM_001405634.1:c.4460C>T NP_001392563.1:p.Ala1487Val missense NM_001405635.1:c.4616C>T NP_001392564.1:p.Ala1539Val missense NM_001405636.1:c.4562C>T NP_001392565.1:p.Ala1521Val missense NM_001405637.1:c.4709C>T NP_001392566.1:p.Ala1570Val missense NM_001405638.1:c.4595C>T NP_001392567.1:p.Ala1532Val missense NM_001405639.1:c.4781C>T NP_001392568.1:p.Ala1594Val missense NM_001405640.1:c.4535C>T NP_001392569.1:p.Ala1512Val missense NM_001405641.1:c.4700C>T NP_001392570.1:p.Ala1567Val missense NM_001405642.1:c.4436C>T NP_001392571.1:p.Ala1479Val missense NM_001405643.1:c.4700C>T NP_001392572.1:p.Ala1567Val missense NM_018165.4:c.4595C>T NP_060635.2:p.Ala1532Val missense NM_018313.5:c.4535C>T NP_060783.3:p.Ala1512Val missense NM_181042.5:c.4535C>T NP_851385.1:p.Ala1512Val missense NR_174502.1:n.5003C>T non-coding transcript variant NR_175959.1:n.5045C>T non-coding transcript variant NC_000003.12:g.52550462G>A NC_000003.11:g.52584478G>A NG_032108.1:g.140389C>T - Protein change
- A1512V, A1523V, A1548V, A1564V, A1545V, A1508V, A1530V, A1513V, A1529V, A1533V, A1547V, A1588V, A1072V, A1160V, A1479V, A1486V, A1487V, A1494V, A1500V, A1501V, A1506V, A1511V, A1516V, A1521V, A1525V, A1532V, A1539V, A1541V, A1557V, A1563V, A1566V, A1567V, A1570V, A1571V, A1572V, A1573V, A1579V, A1581V, A1582V, A1585V, A1587V, A1594V, A1599V, A1601V, A1618V, A1619V, A1621V, A1628V, A1634V, A876V, A928V
- Other names
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- Canonical SPDI
- NC_000003.12:52550461:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00040 (A)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00005
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00019
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
1000 Genomes Project 30x 0.00031
1000 Genomes Project 0.00040
Exome Aggregation Consortium (ExAC) 0.00020
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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PBRM1 | - | - |
GRCh38 GRCh37 |
65 | 76 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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not provided (1) |
no classification provided
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Sep 19, 2013 | RCV000121775.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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not provided
(Sep 19, 2013)
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no classification provided
Method: reference population
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AllHighlyPenetrant
Affected status: unknown
Allele origin:
germline
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ITMI
Accession: SCV000085973.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014
Comment:
Please see associated publication for description of ethnicities
|
Observation 1:
Ethnicity/Population group: Whole_cohort
Observation 2:
Ethnicity/Population group: African
Observation 3:
Ethnicity/Population group: African_European
Observation 4:
Ethnicity/Population group: Central_Asian
Observation 5:
Ethnicity/Population group: East_Asian
Observation 6:
Ethnicity/Population group: European
Observation 7:
Ethnicity/Population group: Hispanic
|
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs142726131 ...
HelpRecord last updated Dec 25, 2023
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.