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NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(4);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
8 (Most recent: Sep 28, 2021)
Last evaluated:
Dec 7, 2020
Accession:
VCV000038084.10
Variation ID:
38084
Description:
single nucleotide variant
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NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val)

Allele ID
46640
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32354955 (GRCh38) GRCh38 UCSC
13: 32929092 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.11:g.32354955T>G
NG_012772.3:g.44476T>G
NM_000059.4:c.7102T>G MANE Select NP_000050.3:p.Leu2368Val missense
... more HGVS
Protein change
L2368V
Other names
7330T>G
Canonical SPDI
NC_000013.11:32354954:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00004
Exome Aggregation Consortium (ExAC) 0.00011
Trans-Omics for Precision Medicine (TOPMed) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00008
The Genome Aggregation Database (gnomAD) 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00010
Links
ClinGen: CA024871
dbSNP: rs397507382
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Dec 5, 2016 RCV000132508.3
Uncertain significance 2 criteria provided, single submitter Nov 17, 2015 RCV000031666.5
Benign 1 criteria provided, single submitter Dec 7, 2020 RCV000206651.8
Benign 1 criteria provided, single submitter May 20, 2019 RCV000445338.6
Likely benign 1 criteria provided, single submitter Jun 17, 2020 RCV001711136.1
Likely benign 1 no assertion criteria provided - RCV001353652.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
13784 13899

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 17, 2015)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: unknown
Counsyl
Accession: SCV000487804.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)
Benign
(Dec 05, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000910908.1
Submitted: (Nov 06, 2018)
Evidence details
Benign
(May 20, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000695039.2
Submitted: (Sep 24, 2019)
Evidence details
Publications
PubMed (3)
Comment:
Variant summary: BRCA2 c.7102T>G (p.Leu2368Val) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign … (more)
Benign
(Dec 07, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000261841.8
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jun 17, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000512384.5
Submitted: (Sep 28, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 21218378, 26689913, 28508593, 29146900, 30093976, 31825140)
Benign
(Nov 19, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000187604.5
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA … (more)
Benign
(Nov 08, 2011)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Sharing Clinical Reports Project (SCRP)
Accession: SCV000054273.3
Submitted: (Jun 20, 2012)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
Malignant tumor of breast
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000592098.2
Submitted: (Mar 31, 2021)
Evidence details
Comment:
The BRCA2 p.Leu2368Val variant was identified in the literature in an individual with breast cancer (Carney 2010). The variant was identified in co-occurrence with a … (more)

Functional evidence

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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 this variant

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Title Author Journal Year Link
Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers. Chan GHJ Oncotarget 2018 PMID: 30093976
Patterns and functional implications of rare germline variants across 12 cancer types. Lu C Nature communications 2015 PMID: 26689913
Detection of BRCA1 and BRCA2 mutations in a selected Hawaii population. Carney ME Hawaii medical journal 2010 PMID: 21218378

Text-mined citations for rs397507382...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Dec 04, 2021