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NM_000059.3(BRCA2):c.6938-25_6938-19del

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Feb 14, 2020)
Last evaluated:
Feb 12, 2020
Accession:
VCV000420655.3
Variation ID:
420655
Description:
7bp deletion
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NM_000059.3(BRCA2):c.6938-25_6938-19del

Allele ID
408962
Variant type
Deletion
Variant length
7 bp
Cytogenetic location
13q13.1
Genomic location
13: 32346796-32346802 (GRCh38) GRCh38 UCSC
13: 32920933-32920939 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32920939_32920945del
NC_000013.11:g.32346802_32346808del
NM_000059.3:c.6938-25_6938-19del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:32346795:TAATATGTAATAT:TAATAT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA6941025
dbSNP: rs762815401
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Feb 12, 2020 RCV000481901.4
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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
14102 14215

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Oct 09, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000569581.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Apr 16, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001157075.1
Submitted: (Aug 05, 2019)
Evidence details
Benign
(Feb 12, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
(Autosomal dominant inheritance)
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000695010.2
Submitted: (Feb 14, 2020)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: BRCA2 c.6938-25_6938-19delGTAATAT alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered … (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
BRCA1 and BRCA2 mutations in women from Shanghai China. Suter NM Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2004 PMID: 14973102

Text-mined citations for rs762815401...

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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 Jun 14, 2021