ClinVar Genomic variation as it relates to human health
NM_001405607.1(PBRM1):c.1097A>G (p.Tyr366Cys)
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.1097A>G (p.Tyr366Cys)
Variation ID: 135006 Accession: VCV000135006.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3p21.1 3: 52634806 (GRCh38) [ NCBI UCSC ] 3: 52668822 (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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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001405607.1:c.1097A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001392536.1:p.Tyr366Cys missense NM_001350074.2:c.1160A>G NP_001337003.1:p.Tyr387Cys missense NM_001350075.2:c.1097A>G NP_001337004.1:p.Tyr366Cys missense NM_001350076.2:c.1160A>G NP_001337005.1:p.Tyr387Cys missense NM_001350077.2:c.1151A>G NP_001337006.1:p.Tyr384Cys missense NM_001350078.2:c.1160A>G NP_001337007.1:p.Tyr387Cys missense NM_001350079.2:c.1160A>G NP_001337008.1:p.Tyr387Cys missense NM_001366070.2:c.1160A>G NP_001352999.1:p.Tyr387Cys missense NM_001366071.2:c.1160A>G NP_001353000.1:p.Tyr387Cys missense NM_001366072.2:c.1160A>G NP_001353001.1:p.Tyr387Cys missense NM_001366073.2:c.1151A>G NP_001353002.1:p.Tyr384Cys missense NM_001366074.2:c.1148A>G NP_001353003.1:p.Tyr383Cys missense NM_001366075.2:c.1160A>G NP_001353004.1:p.Tyr387Cys missense NM_001366076.2:c.1055A>G NP_001353005.1:p.Tyr352Cys missense NM_001394867.1:c.1097A>G NP_001381796.1:p.Tyr366Cys missense NM_001394868.1:c.1097A>G NP_001381797.1:p.Tyr366Cys missense NM_001394869.1:c.1097A>G NP_001381798.1:p.Tyr366Cys missense NM_001394870.1:c.1151A>G NP_001381799.1:p.Tyr384Cys missense NM_001394871.1:c.1097A>G NP_001381800.1:p.Tyr366Cys missense NM_001394872.1:c.1097A>G NP_001381801.1:p.Tyr366Cys missense NM_001394873.1:c.1097A>G NP_001381802.1:p.Tyr366Cys missense NM_001394874.1:c.1097A>G NP_001381803.1:p.Tyr366Cys missense NM_001394875.1:c.1097A>G NP_001381804.1:p.Tyr366Cys missense NM_001394876.1:c.1097A>G NP_001381805.1:p.Tyr366Cys missense NM_001394877.1:c.1097A>G NP_001381806.1:p.Tyr366Cys missense NM_001394878.1:c.1061A>G NP_001381807.1:p.Tyr354Cys missense NM_001394879.1:c.1001A>G NP_001381808.1:p.Tyr334Cys missense NM_001400470.1:c.1097A>G NP_001387399.1:p.Tyr366Cys missense NM_001400471.1:c.1097A>G NP_001387400.1:p.Tyr366Cys missense NM_001400472.1:c.1097A>G NP_001387401.1:p.Tyr366Cys missense NM_001400473.1:c.1097A>G NP_001387402.1:p.Tyr366Cys missense NM_001400474.1:c.1097A>G NP_001387403.1:p.Tyr366Cys missense NM_001400475.1:c.1097A>G NP_001387404.1:p.Tyr366Cys missense NM_001400479.1:c.1097A>G NP_001387408.1:p.Tyr366Cys missense NM_001400481.1:c.1097A>G NP_001387410.1:p.Tyr366Cys missense NM_001400484.1:c.1097A>G NP_001387413.1:p.Tyr366Cys missense NM_001400487.1:c.1001A>G NP_001387416.1:p.Tyr334Cys missense NM_001400490.1:c.1097A>G NP_001387419.1:p.Tyr366Cys missense NM_001400496.1:c.1097A>G NP_001387425.1:p.Tyr366Cys missense NM_001400500.1:c.1097A>G NP_001387429.1:p.Tyr366Cys missense NM_001400501.1:c.1097A>G NP_001387430.1:p.Tyr366Cys missense NM_001400504.1:c.1097A>G NP_001387433.1:p.Tyr366Cys missense NM_001405552.1:c.1199A>G NP_001392481.1:p.Tyr400Cys missense NM_001405553.1:c.1160A>G NP_001392482.1:p.Tyr387Cys missense NM_001405554.1:c.1205A>G NP_001392483.1:p.Tyr402Cys missense NM_001405555.1:c.1097A>G NP_001392484.1:p.Tyr366Cys missense NM_001405556.1:c.1097A>G NP_001392485.1:p.Tyr366Cys missense NM_001405557.1:c.1097A>G NP_001392486.1:p.Tyr366Cys missense NM_001405558.1:c.1097A>G NP_001392487.1:p.Tyr366Cys missense NM_001405559.1:c.1097A>G NP_001392488.1:p.Tyr366Cys missense NM_001405560.1:c.998A>G NP_001392489.1:p.Tyr333Cys missense NM_001405561.1:c.1097A>G NP_001392490.1:p.Tyr366Cys missense NM_001405563.1:c.1097A>G NP_001392492.1:p.Tyr366Cys missense NM_001405564.1:c.1124A>G NP_001392493.1:p.Tyr375Cys missense NM_001405565.1:c.1097A>G NP_001392494.1:p.Tyr366Cys missense NM_001405566.1:c.-886A>G 5 prime UTR NM_001405567.1:c.1097A>G NP_001392496.1:p.Tyr366Cys missense NM_001405568.1:c.1124A>G NP_001392497.1:p.Tyr375Cys missense NM_001405569.1:c.1124A>G NP_001392498.1:p.Tyr375Cys missense NM_001405570.1:c.1097A>G NP_001392499.1:p.Tyr366Cys missense NM_001405571.1:c.1097A>G NP_001392500.1:p.Tyr366Cys missense NM_001405572.1:c.1001A>G NP_001392501.1:p.Tyr334Cys missense NM_001405573.1:c.911A>G NP_001392502.1:p.Tyr304Cys missense NM_001405574.1:c.1151A>G NP_001392503.1:p.Tyr384Cys missense NM_001405575.1:c.1097A>G NP_001392504.1:p.Tyr366Cys missense NM_001405576.1:c.1097A>G NP_001392505.1:p.Tyr366Cys missense NM_001405577.1:c.1097A>G NP_001392506.1:p.Tyr366Cys missense NM_001405578.1:c.1097A>G NP_001392507.1:p.Tyr366Cys missense NM_001405579.1:c.1097A>G NP_001392508.1:p.Tyr366Cys missense NM_001405580.1:c.1124A>G NP_001392509.1:p.Tyr375Cys missense NM_001405581.1:c.1097A>G NP_001392510.1:p.Tyr366Cys missense NM_001405582.1:c.1001A>G NP_001392511.1:p.Tyr334Cys missense NM_001405583.1:c.1097A>G NP_001392512.1:p.Tyr366Cys missense NM_001405584.1:c.1097A>G NP_001392513.1:p.Tyr366Cys missense NM_001405585.1:c.1097A>G NP_001392514.1:p.Tyr366Cys missense NM_001405586.1:c.1124A>G NP_001392515.1:p.Tyr375Cys missense NM_001405587.1:c.953A>G NP_001392516.1:p.Tyr318Cys missense NM_001405588.1:c.1097A>G NP_001392517.1:p.Tyr366Cys missense NM_001405589.1:c.1097A>G NP_001392518.1:p.Tyr366Cys missense NM_001405590.1:c.1097A>G NP_001392519.1:p.Tyr366Cys missense NM_001405591.1:c.1151A>G NP_001392520.1:p.Tyr384Cys missense NM_001405592.1:c.1097A>G NP_001392521.1:p.Tyr366Cys missense NM_001405593.1:c.1097A>G NP_001392522.1:p.Tyr366Cys missense NM_001405594.1:c.1097A>G NP_001392523.1:p.Tyr366Cys missense NM_001405595.1:c.1028A>G NP_001392524.1:p.Tyr343Cys missense NM_001405596.1:c.-886A>G 5 prime UTR NM_001405597.1:c.980A>G NP_001392526.1:p.Tyr327Cys missense NM_001405598.1:c.1124A>G NP_001392527.1:p.Tyr375Cys missense NM_001405599.1:c.1001A>G NP_001392528.1:p.Tyr334Cys missense NM_001405600.1:c.1151A>G NP_001392529.1:p.Tyr384Cys missense NM_001405601.1:c.1097A>G NP_001392530.1:p.Tyr366Cys missense NM_001405602.1:c.1001A>G NP_001392531.1:p.Tyr334Cys missense NM_001405603.1:c.1097A>G NP_001392532.1:p.Tyr366Cys missense NM_001405604.1:c.1001A>G NP_001392533.1:p.Tyr334Cys missense NM_001405605.1:c.1097A>G NP_001392534.1:p.Tyr366Cys missense NM_001405606.1:c.1001A>G NP_001392535.1:p.Tyr334Cys missense NM_001405608.1:c.-41A>G 5 prime UTR NM_001405609.1:c.1097A>G NP_001392538.1:p.Tyr366Cys missense NM_001405610.1:c.1097A>G NP_001392539.1:p.Tyr366Cys missense NM_001405611.1:c.1097A>G NP_001392540.1:p.Tyr366Cys missense NM_001405612.1:c.1097A>G NP_001392541.1:p.Tyr366Cys missense NM_001405622.1:c.1160A>G NP_001392551.1:p.Tyr387Cys missense NM_001405623.1:c.1097A>G NP_001392552.1:p.Tyr366Cys missense NM_001405624.1:c.1097A>G NP_001392553.1:p.Tyr366Cys missense NM_001405625.1:c.-486A>G 5 prime UTR NM_001405626.1:c.1097A>G NP_001392555.1:p.Tyr366Cys missense NM_001405627.1:c.1097A>G NP_001392556.1:p.Tyr366Cys missense NM_001405628.1:c.1097A>G NP_001392557.1:p.Tyr366Cys missense NM_001405629.1:c.1097A>G NP_001392558.1:p.Tyr366Cys missense NM_001405630.1:c.1097A>G NP_001392559.1:p.Tyr366Cys missense NM_001405631.1:c.1097A>G NP_001392560.1:p.Tyr366Cys missense NM_001405632.1:c.1097A>G NP_001392561.1:p.Tyr366Cys missense NM_001405633.1:c.1097A>G NP_001392562.1:p.Tyr366Cys missense NM_001405634.1:c.1097A>G NP_001392563.1:p.Tyr366Cys missense NM_001405635.1:c.1097A>G NP_001392564.1:p.Tyr366Cys missense NM_001405636.1:c.1124A>G NP_001392565.1:p.Tyr375Cys missense NM_001405637.1:c.1115A>G NP_001392566.1:p.Tyr372Cys missense NM_001405638.1:c.1001A>G NP_001392567.1:p.Tyr334Cys missense NM_001405639.1:c.1097A>G NP_001392568.1:p.Tyr366Cys missense NM_001405640.1:c.1097A>G NP_001392569.1:p.Tyr366Cys missense NM_001405641.1:c.1097A>G NP_001392570.1:p.Tyr366Cys missense NM_001405642.1:c.998A>G NP_001392571.1:p.Tyr333Cys missense NM_001405643.1:c.1097A>G NP_001392572.1:p.Tyr366Cys missense NM_018165.4:c.1001A>G NP_060635.2:p.Tyr334Cys missense NM_018313.5:c.1097A>G NP_060783.3:p.Tyr366Cys missense NM_181042.5:c.1097A>G NP_851385.1:p.Tyr366Cys missense NR_174502.1:n.1277A>G non-coding transcript variant NR_175959.1:n.1274A>G non-coding transcript variant NC_000003.12:g.52634806T>C NC_000003.11:g.52668822T>C NG_032108.1:g.56045A>G - Protein change
- Y366C, Y383C, Y384C, Y352C, Y387C, Y304C, Y318C, Y327C, Y333C, Y334C, Y343C, Y354C, Y372C, Y375C, Y400C, Y402C
- Other names
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- Canonical SPDI
- NC_000003.12:52634805:T:C
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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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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Trans-Omics for Precision Medicine (TOPMed) 0.00013
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00006
- Links
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 | ||
|---|---|---|---|---|---|---|
| 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. |
|---|---|---|---|---|
| not provided (1) |
no classification provided
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Sep 19, 2013 | RCV000121773.1 |
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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|---|---|---|---|---|---|
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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: SCV000085971.1
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
Help| There 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 rs373477703 ...
HelpRecord last updated Apr 30, 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.