ClinVar Genomic variation as it relates to human health
NM_001405607.1(PBRM1):c.4792C>T (p.Pro1598Ser)
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.4792C>T (p.Pro1598Ser)
Variation ID: 425296 Accession: VCV000425296.24
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3p21.1 3: 52550571 (GRCh38) [ NCBI UCSC ] 3: 52584587 (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 May 8, 2017 May 12, 2024 Nov 1, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001405607.1:c.4792C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001392536.1:p.Pro1598Ser missense NM_001350074.2:c.4534C>T NP_001337003.1:p.Pro1512Ser missense NM_001350075.2:c.4582C>T NP_001337004.1:p.Pro1528Ser missense NM_001350076.2:c.4531C>T NP_001337005.1:p.Pro1511Ser missense NM_001350077.2:c.4525C>T NP_001337006.1:p.Pro1509Ser missense NM_001350078.2:c.4534C>T NP_001337007.1:p.Pro1512Ser missense NM_001350079.2:c.4414C>T NP_001337008.1:p.Pro1472Ser missense NM_001366070.2:c.4534C>T NP_001352999.1:p.Pro1512Ser missense NM_001366071.2:c.4654C>T NP_001353000.1:p.Pro1552Ser missense NM_001366072.2:c.4489C>T NP_001353001.1:p.Pro1497Ser missense NM_001366073.2:c.4480C>T NP_001353002.1:p.Pro1494Ser missense NM_001366074.2:c.4477C>T NP_001353003.1:p.Pro1493Ser missense NM_001366075.2:c.4459C>T NP_001353004.1:p.Pro1487Ser missense NM_001366076.2:c.4429C>T NP_001353005.1:p.Pro1477Ser missense NM_001394867.1:c.4747C>T NP_001381796.1:p.Pro1583Ser missense NM_001394868.1:c.4747C>T NP_001381797.1:p.Pro1583Ser missense NM_001394869.1:c.4747C>T NP_001381798.1:p.Pro1583Ser missense NM_001394870.1:c.4636C>T NP_001381799.1:p.Pro1546Ser missense NM_001394871.1:c.4591C>T NP_001381800.1:p.Pro1531Ser missense NM_001394872.1:c.4582C>T NP_001381801.1:p.Pro1528Ser missense NM_001394873.1:c.4579C>T NP_001381802.1:p.Pro1527Ser missense NM_001394874.1:c.4579C>T NP_001381803.1:p.Pro1527Ser missense NM_001394875.1:c.4426C>T NP_001381804.1:p.Pro1476Ser missense NM_001394876.1:c.4423C>T NP_001381805.1:p.Pro1475Ser missense NM_001394877.1:c.4423C>T NP_001381806.1:p.Pro1475Ser missense NM_001394878.1:c.4390C>T NP_001381807.1:p.Pro1464Ser missense NM_001400470.1:c.4747C>T NP_001387399.1:p.Pro1583Ser missense NM_001400471.1:c.4636C>T NP_001387400.1:p.Pro1546Ser missense NM_001400472.1:c.4603C>T NP_001387401.1:p.Pro1535Ser missense NM_001400473.1:c.4588C>T NP_001387402.1:p.Pro1530Ser missense NM_001400474.1:c.4582C>T NP_001387403.1:p.Pro1528Ser missense NM_001400475.1:c.4582C>T NP_001387404.1:p.Pro1528Ser missense NM_001400479.1:c.4582C>T NP_001387408.1:p.Pro1528Ser missense NM_001400481.1:c.4579C>T NP_001387410.1:p.Pro1527Ser missense NM_001400484.1:c.4507C>T NP_001387413.1:p.Pro1503Ser missense NM_001400487.1:c.4486C>T NP_001387416.1:p.Pro1496Ser missense NM_001400490.1:c.4351C>T NP_001387419.1:p.Pro1451Ser missense NM_001400496.1:c.4426C>T NP_001387425.1:p.Pro1476Ser missense NM_001400500.1:c.4426C>T NP_001387429.1:p.Pro1476Ser missense NM_001400501.1:c.4426C>T NP_001387430.1:p.Pro1476Ser missense NM_001400504.1:c.4351C>T NP_001387433.1:p.Pro1451Ser missense NM_001405552.1:c.4693C>T NP_001392481.1:p.Pro1565Ser missense NM_001405553.1:c.4645C>T NP_001392482.1:p.Pro1549Ser missense NM_001405554.1:c.4687C>T NP_001392483.1:p.Pro1563Ser missense NM_001405555.1:c.4426C>T NP_001392484.1:p.Pro1476Ser missense NM_001405556.1:c.4582C>T NP_001392485.1:p.Pro1528Ser missense NM_001405557.1:c.4582C>T NP_001392486.1:p.Pro1528Ser missense NM_001405558.1:c.4507C>T NP_001392487.1:p.Pro1503Ser missense NM_001405559.1:c.4672C>T NP_001392488.1:p.Pro1558Ser missense NM_001405560.1:c.4327C>T NP_001392489.1:p.Pro1443Ser missense NM_001405561.1:c.4579C>T NP_001392490.1:p.Pro1527Ser missense NM_001405563.1:c.4423C>T NP_001392492.1:p.Pro1475Ser missense NM_001405564.1:c.4453C>T NP_001392493.1:p.Pro1485Ser missense NM_001405565.1:c.4507C>T NP_001392494.1:p.Pro1503Ser missense NM_001405566.1:c.2518C>T NP_001392495.1:p.Pro840Ser missense NM_001405567.1:c.4744C>T NP_001392496.1:p.Pro1582Ser missense NM_001405568.1:c.4609C>T NP_001392497.1:p.Pro1537Ser missense NM_001405569.1:c.4606C>T NP_001392498.1:p.Pro1536Ser missense NM_001405570.1:c.4753C>T NP_001392499.1:p.Pro1585Ser missense NM_001405571.1:c.4627C>T NP_001392500.1:p.Pro1543Ser missense NM_001405572.1:c.4408C>T NP_001392501.1:p.Pro1470Ser missense NM_001405573.1:c.4393C>T NP_001392502.1:p.Pro1465Ser missense NM_001405574.1:c.4633C>T NP_001392503.1:p.Pro1545Ser missense NM_001405575.1:c.4579C>T NP_001392504.1:p.Pro1527Ser missense NM_001405576.1:c.4348C>T NP_001392505.1:p.Pro1450Ser missense NM_001405577.1:c.4426C>T NP_001392506.1:p.Pro1476Ser missense NM_001405578.1:c.4579C>T NP_001392507.1:p.Pro1527Ser missense NM_001405579.1:c.4588C>T NP_001392508.1:p.Pro1530Ser missense NM_001405580.1:c.4372C>T NP_001392509.1:p.Pro1458Ser missense NM_001405581.1:c.4747C>T NP_001392510.1:p.Pro1583Ser missense NM_001405582.1:c.4486C>T NP_001392511.1:p.Pro1496Ser missense NM_001405583.1:c.4591C>T NP_001392512.1:p.Pro1531Ser missense NM_001405584.1:c.4591C>T NP_001392513.1:p.Pro1531Ser missense NM_001405585.1:c.4579C>T NP_001392514.1:p.Pro1527Ser missense NM_001405586.1:c.4531C>T NP_001392515.1:p.Pro1511Ser missense NM_001405587.1:c.4438C>T NP_001392516.1:p.Pro1480Ser missense NM_001405588.1:c.4672C>T NP_001392517.1:p.Pro1558Ser missense NM_001405589.1:c.4744C>T NP_001392518.1:p.Pro1582Ser missense NM_001405590.1:c.4579C>T NP_001392519.1:p.Pro1527Ser missense NM_001405591.1:c.4561C>T NP_001392520.1:p.Pro1521Ser missense NM_001405592.1:c.4351C>T NP_001392521.1:p.Pro1451Ser missense NM_001405593.1:c.4426C>T NP_001392522.1:p.Pro1476Ser missense NM_001405594.1:c.4747C>T NP_001392523.1:p.Pro1583Ser missense NM_001405595.1:c.4513C>T NP_001392524.1:p.Pro1505Ser missense NM_001405596.1:c.2674C>T NP_001392525.1:p.Pro892Ser missense NM_001405597.1:c.4465C>T NP_001392526.1:p.Pro1489Ser missense NM_001405598.1:c.4774C>T NP_001392527.1:p.Pro1592Ser missense NM_001405599.1:c.4486C>T NP_001392528.1:p.Pro1496Ser missense NM_001405600.1:c.4636C>T NP_001392529.1:p.Pro1546Ser missense NM_001405601.1:c.4792C>T NP_001392530.1:p.Pro1598Ser missense NM_001405602.1:c.4327C>T NP_001392531.1:p.Pro1443Ser missense NM_001405603.1:c.4747C>T NP_001392532.1:p.Pro1583Ser missense NM_001405604.1:c.4651C>T NP_001392533.1:p.Pro1551Ser missense NM_001405605.1:c.4351C>T NP_001392534.1:p.Pro1451Ser missense NM_001405606.1:c.4486C>T NP_001392535.1:p.Pro1496Ser missense NM_001405608.1:c.3370C>T NP_001392537.1:p.Pro1124Ser missense NM_001405609.1:c.4582C>T NP_001392538.1:p.Pro1528Ser missense NM_001405622.1:c.4645C>T NP_001392551.1:p.Pro1549Ser missense NM_001405623.1:c.4582C>T NP_001392552.1:p.Pro1528Ser missense NM_001405624.1:c.4423C>T NP_001392553.1:p.Pro1475Ser missense NM_001405625.1:c.3106C>T NP_001392554.1:p.Pro1036Ser missense NM_001405626.1:c.4426C>T NP_001392555.1:p.Pro1476Ser missense NM_001405627.1:c.4426C>T NP_001392556.1:p.Pro1476Ser missense NM_001405628.1:c.4582C>T NP_001392557.1:p.Pro1528Ser missense NM_001405629.1:c.4744C>T NP_001392558.1:p.Pro1582Ser missense NM_001405630.1:c.4582C>T NP_001392559.1:p.Pro1528Ser missense NM_001405631.1:c.4582C>T NP_001392560.1:p.Pro1528Ser missense NM_001405632.1:c.4579C>T NP_001392561.1:p.Pro1527Ser missense NM_001405633.1:c.4507C>T NP_001392562.1:p.Pro1503Ser missense NM_001405634.1:c.4351C>T NP_001392563.1:p.Pro1451Ser missense NM_001405635.1:c.4507C>T NP_001392564.1:p.Pro1503Ser missense NM_001405636.1:c.4453C>T NP_001392565.1:p.Pro1485Ser missense NM_001405637.1:c.4600C>T NP_001392566.1:p.Pro1534Ser missense NM_001405638.1:c.4486C>T NP_001392567.1:p.Pro1496Ser missense NM_001405639.1:c.4672C>T NP_001392568.1:p.Pro1558Ser missense NM_001405640.1:c.4426C>T NP_001392569.1:p.Pro1476Ser missense NM_001405641.1:c.4591C>T NP_001392570.1:p.Pro1531Ser missense NM_001405642.1:c.4327C>T NP_001392571.1:p.Pro1443Ser missense NM_001405643.1:c.4591C>T NP_001392572.1:p.Pro1531Ser missense NM_018165.4:c.4486C>T NP_060635.2:p.Pro1496Ser missense NM_018313.5:c.4426C>T NP_060783.3:p.Pro1476Ser missense NM_181042.5:c.4426C>T NP_851385.1:p.Pro1476Ser missense NR_174502.1:n.4894C>T non-coding transcript variant NR_175959.1:n.4936C>T non-coding transcript variant NC_000003.12:g.52550571G>A NC_000003.11:g.52584587G>A NG_032108.1:g.140280C>T - Protein change
- P1476S, P1497S, P1512S, P1552S, P1472S, P1477S, P1509S, P1487S, P1493S, P1494S, P1511S, P1528S, P1036S, P1124S, P1443S, P1450S, P1451S, P1458S, P1464S, P1465S, P1470S, P1475S, P1480S, P1485S, P1489S, P1496S, P1503S, P1505S, P1521S, P1527S, P1530S, P1531S, P1534S, P1535S, P1536S, P1537S, P1543S, P1545S, P1546S, P1549S, P1551S, P1558S, P1563S, P1565S, P1582S, P1583S, P1585S, P1592S, P1598S, P840S, P892S
- Other names
- -
- Canonical SPDI
- NC_000003.12:52550570: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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0.00060 (A)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
The Genome Aggregation Database (gnomAD) 0.00031
Trans-Omics for Precision Medicine (TOPMed) 0.00038
Exome Aggregation Consortium (ExAC) 0.00046
1000 Genomes Project 30x 0.00047
The Genome Aggregation Database (gnomAD), exomes 0.00049
1000 Genomes Project 0.00060
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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Uncertain significance (1) |
criteria provided, single submitter
|
Nov 1, 2016 | RCV000487857.18 |
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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Uncertain significance
(Nov 01, 2016)
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criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV000575355.27
First in ClinVar: May 08, 2017 Last updated: May 12, 2024 |
Number of individuals with the variant: 1
|
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 rs144852450 ...
HelpRecord last updated May 12, 2024
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.