ClinVar Genomic variation as it relates to human health
NM_001405607.1(PBRM1):c.3999G>T (p.Glu1333Asp)
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.3999G>T (p.Glu1333Asp)
Variation ID: 2497711 Accession: VCV002497711.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3p21.1 3: 52563415 (GRCh38) [ NCBI UCSC ] 3: 52597431 (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 Oct 7, 2023 Oct 7, 2023 Feb 8, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001405607.1:c.3999G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001392536.1:p.Glu1333Asp missense NM_001350074.2:c.4062G>T NP_001337003.1:p.Glu1354Asp missense NM_001350075.2:c.3954G>T NP_001337004.1:p.Glu1318Asp missense NM_001350076.2:c.4059G>T NP_001337005.1:p.Glu1353Asp missense NM_001350077.2:c.4053G>T NP_001337006.1:p.Glu1351Asp missense NM_001350078.2:c.4062G>T NP_001337007.1:p.Glu1354Asp missense NM_001350079.2:c.3942G>T NP_001337008.1:p.Glu1314Asp missense NM_001366070.2:c.4062G>T NP_001352999.1:p.Glu1354Asp missense NM_001366071.2:c.4017G>T NP_001353000.1:p.Glu1339Asp missense NM_001366072.2:c.4017G>T NP_001353001.1:p.Glu1339Asp missense NM_001366073.2:c.4008G>T NP_001353002.1:p.Glu1336Asp missense NM_001366074.2:c.4005G>T NP_001353003.1:p.Glu1335Asp missense NM_001366075.2:c.3987G>T NP_001353004.1:p.Glu1329Asp missense NM_001366076.2:c.3957G>T NP_001353005.1:p.Glu1319Asp missense NM_001394867.1:c.3954G>T NP_001381796.1:p.Glu1318Asp missense NM_001394868.1:c.3954G>T NP_001381797.1:p.Glu1318Asp missense NM_001394869.1:c.3954G>T NP_001381798.1:p.Glu1318Asp missense NM_001394870.1:c.4008G>T NP_001381799.1:p.Glu1336Asp missense NM_001394871.1:c.3954G>T NP_001381800.1:p.Glu1318Asp missense NM_001394872.1:c.3954G>T NP_001381801.1:p.Glu1318Asp missense NM_001394873.1:c.3951G>T NP_001381802.1:p.Glu1317Asp missense NM_001394874.1:c.3951G>T NP_001381803.1:p.Glu1317Asp missense NM_001394875.1:c.3954G>T NP_001381804.1:p.Glu1318Asp missense NM_001394876.1:c.3951G>T NP_001381805.1:p.Glu1317Asp missense NM_001394877.1:c.3951G>T NP_001381806.1:p.Glu1317Asp missense NM_001394878.1:c.3918G>T NP_001381807.1:p.Glu1306Asp missense NM_001394879.1:c.3858G>T NP_001381808.1:p.Glu1286Asp missense NM_001400470.1:c.3954G>T NP_001387399.1:p.Glu1318Asp missense NM_001400471.1:c.3924G>T NP_001387400.1:p.Glu1308Asp missense NM_001400472.1:c.3975G>T NP_001387401.1:p.Glu1325Asp missense NM_001400473.1:c.3951G>T NP_001387402.1:p.Glu1317Asp missense NM_001400474.1:c.3954G>T NP_001387403.1:p.Glu1318Asp missense NM_001400475.1:c.3954G>T NP_001387404.1:p.Glu1318Asp missense NM_001400479.1:c.3954G>T NP_001387408.1:p.Glu1318Asp missense NM_001400481.1:c.3951G>T NP_001387410.1:p.Glu1317Asp missense NM_001400484.1:c.3879G>T NP_001387413.1:p.Glu1293Asp missense NM_001400487.1:c.3858G>T NP_001387416.1:p.Glu1286Asp missense NM_001400490.1:c.3879G>T NP_001387419.1:p.Glu1293Asp missense NM_001400496.1:c.3954G>T NP_001387425.1:p.Glu1318Asp missense NM_001400500.1:c.3954G>T NP_001387429.1:p.Glu1318Asp missense NM_001400501.1:c.3954G>T NP_001387430.1:p.Glu1318Asp missense NM_001400504.1:c.3879G>T NP_001387433.1:p.Glu1293Asp missense NM_001405552.1:c.4056G>T NP_001392481.1:p.Glu1352Asp missense NM_001405553.1:c.4017G>T NP_001392482.1:p.Glu1339Asp missense NM_001405554.1:c.4059G>T NP_001392483.1:p.Glu1353Asp missense NM_001405555.1:c.3954G>T NP_001392484.1:p.Glu1318Asp missense NM_001405556.1:c.3954G>T NP_001392485.1:p.Glu1318Asp missense NM_001405557.1:c.3954G>T NP_001392486.1:p.Glu1318Asp missense NM_001405558.1:c.3879G>T NP_001392487.1:p.Glu1293Asp missense NM_001405559.1:c.3879G>T NP_001392488.1:p.Glu1293Asp missense NM_001405560.1:c.3855G>T NP_001392489.1:p.Glu1285Asp missense NM_001405561.1:c.3951G>T NP_001392490.1:p.Glu1317Asp missense NM_001405563.1:c.3951G>T NP_001392492.1:p.Glu1317Asp missense NM_001405564.1:c.3981G>T NP_001392493.1:p.Glu1327Asp missense NM_001405565.1:c.3879G>T NP_001392494.1:p.Glu1293Asp missense NM_001405566.1:c.2046G>T NP_001392495.1:p.Glu682Asp missense NM_001405567.1:c.3951G>T NP_001392496.1:p.Glu1317Asp missense NM_001405568.1:c.3981G>T NP_001392497.1:p.Glu1327Asp missense NM_001405569.1:c.3978G>T NP_001392498.1:p.Glu1326Asp missense NM_001405570.1:c.3954G>T NP_001392499.1:p.Glu1318Asp missense NM_001405571.1:c.3999G>T NP_001392500.1:p.Glu1333Asp missense NM_001405572.1:c.3780G>T NP_001392501.1:p.Glu1260Asp missense NM_001405573.1:c.3765G>T NP_001392502.1:p.Glu1255Asp missense NM_001405574.1:c.4005G>T NP_001392503.1:p.Glu1335Asp missense NM_001405575.1:c.3951G>T NP_001392504.1:p.Glu1317Asp missense NM_001405576.1:c.3876G>T NP_001392505.1:p.Glu1292Asp missense NM_001405577.1:c.3954G>T NP_001392506.1:p.Glu1318Asp missense NM_001405578.1:c.3951G>T NP_001392507.1:p.Glu1317Asp missense NM_001405579.1:c.3951G>T NP_001392508.1:p.Glu1317Asp missense NM_001405580.1:c.3900G>T NP_001392509.1:p.Glu1300Asp missense NM_001405581.1:c.3954G>T NP_001392510.1:p.Glu1318Asp missense NM_001405582.1:c.3858G>T NP_001392511.1:p.Glu1286Asp missense NM_001405583.1:c.3954G>T NP_001392512.1:p.Glu1318Asp missense NM_001405584.1:c.3954G>T NP_001392513.1:p.Glu1318Asp missense NM_001405585.1:c.3951G>T NP_001392514.1:p.Glu1317Asp missense NM_001405586.1:c.3903G>T NP_001392515.1:p.Glu1301Asp missense NM_001405587.1:c.3810G>T NP_001392516.1:p.Glu1270Asp missense NM_001405588.1:c.3879G>T NP_001392517.1:p.Glu1293Asp missense NM_001405589.1:c.3951G>T NP_001392518.1:p.Glu1317Asp missense NM_001405590.1:c.3951G>T NP_001392519.1:p.Glu1317Asp missense NM_001405591.1:c.3933G>T NP_001392520.1:p.Glu1311Asp missense NM_001405592.1:c.3879G>T NP_001392521.1:p.Glu1293Asp missense NM_001405593.1:c.3954G>T NP_001392522.1:p.Glu1318Asp missense NM_001405594.1:c.3954G>T NP_001392523.1:p.Glu1318Asp missense NM_001405595.1:c.3885G>T NP_001392524.1:p.Glu1295Asp missense NM_001405596.1:c.2046G>T NP_001392525.1:p.Glu682Asp missense NM_001405597.1:c.3837G>T NP_001392526.1:p.Glu1279Asp missense NM_001405598.1:c.3981G>T NP_001392527.1:p.Glu1327Asp missense NM_001405599.1:c.3858G>T NP_001392528.1:p.Glu1286Asp missense NM_001405600.1:c.4008G>T NP_001392529.1:p.Glu1336Asp missense NM_001405601.1:c.3999G>T NP_001392530.1:p.Glu1333Asp missense NM_001405602.1:c.3855G>T NP_001392531.1:p.Glu1285Asp missense NM_001405603.1:c.3954G>T NP_001392532.1:p.Glu1318Asp missense NM_001405604.1:c.3858G>T NP_001392533.1:p.Glu1286Asp missense NM_001405605.1:c.3879G>T NP_001392534.1:p.Glu1293Asp missense NM_001405606.1:c.3858G>T NP_001392535.1:p.Glu1286Asp missense NM_001405608.1:c.2742G>T NP_001392537.1:p.Glu914Asp missense NM_001405609.1:c.3954G>T NP_001392538.1:p.Glu1318Asp missense NM_001405610.1:c.3954G>T NP_001392539.1:p.Glu1318Asp missense NM_001405611.1:c.3876G>T NP_001392540.1:p.Glu1292Asp missense NM_001405622.1:c.4017G>T NP_001392551.1:p.Glu1339Asp missense NM_001405623.1:c.3954G>T NP_001392552.1:p.Glu1318Asp missense NM_001405624.1:c.3951G>T NP_001392553.1:p.Glu1317Asp missense NM_001405625.1:c.2313G>T NP_001392554.1:p.Glu771Asp missense NM_001405626.1:c.3954G>T NP_001392555.1:p.Glu1318Asp missense NM_001405627.1:c.3954G>T NP_001392556.1:p.Glu1318Asp missense NM_001405628.1:c.3954G>T NP_001392557.1:p.Glu1318Asp missense NM_001405629.1:c.3951G>T NP_001392558.1:p.Glu1317Asp missense NM_001405630.1:c.3954G>T NP_001392559.1:p.Glu1318Asp missense NM_001405631.1:c.3954G>T NP_001392560.1:p.Glu1318Asp missense NM_001405632.1:c.3951G>T NP_001392561.1:p.Glu1317Asp missense NM_001405633.1:c.3879G>T NP_001392562.1:p.Glu1293Asp missense NM_001405634.1:c.3879G>T NP_001392563.1:p.Glu1293Asp missense NM_001405635.1:c.3879G>T NP_001392564.1:p.Glu1293Asp missense NM_001405636.1:c.3981G>T NP_001392565.1:p.Glu1327Asp missense NM_001405637.1:c.3972G>T NP_001392566.1:p.Glu1324Asp missense NM_001405638.1:c.3858G>T NP_001392567.1:p.Glu1286Asp missense NM_001405639.1:c.3879G>T NP_001392568.1:p.Glu1293Asp missense NM_001405640.1:c.3954G>T NP_001392569.1:p.Glu1318Asp missense NM_001405641.1:c.3954G>T NP_001392570.1:p.Glu1318Asp missense NM_001405642.1:c.3855G>T NP_001392571.1:p.Glu1285Asp missense NM_001405643.1:c.3954G>T NP_001392572.1:p.Glu1318Asp missense NM_018165.4:c.3858G>T NP_060635.2:p.Glu1286Asp missense NM_018313.5:c.3879G>T NP_060783.3:p.Glu1293Asp missense NM_181042.5:c.3954G>T NP_851385.1:p.Glu1318Asp missense NR_174502.1:n.4134G>T non-coding transcript variant NR_175959.1:n.4176G>T non-coding transcript variant NC_000003.12:g.52563415C>A NC_000003.11:g.52597431C>A NG_032108.1:g.127436G>T - Protein change
- E1255D, E1260D, E1270D, E1279D, E1285D, E1286D, E1292D, E1293D, E1295D, E1300D, E1301D, E1306D, E1308D, E1311D, E1314D, E1317D, E1318D, E1319D, E1324D, E1325D, E1326D, E1327D, E1329D, E1333D, E1335D, E1336D, E1339D, E1351D, E1352D, E1353D, E1354D, E682D, E771D, E914D
- Other names
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- Canonical SPDI
- NC_000003.12:52563414:C: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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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- 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 | ||
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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) |
no assertion criteria provided
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Feb 8, 2023 | RCV003331491.2 |
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
(Feb 08, 2023)
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no assertion criteria provided
Method: research
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not provided
Affected status: yes
Allele origin:
de novo
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Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo
Accession: SCV003914767.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
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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 this variant ...
HelpRecord last updated Jun 23, 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.