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NM_000059.3(BRCA2):c.9770_9771del (p.Lys3257fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 1, 2019
Accession:
VCV000632692.3
Variation ID:
632692
Description:
2bp deletion
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NM_000059.3(BRCA2):c.9770_9771del (p.Lys3257fs)

Allele ID
621452
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
13q13.1
Genomic location
13: 32398282-32398283 (GRCh38) GRCh38 UCSC
13: 32972419-32972420 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32972420_32972421del
NC_000013.11:g.32398283_32398284del
NM_000059.3:c.9770_9771del NP_000050.2:p.Lys3257fs frameshift
... more HGVS
Protein change
K3257fs
Other names
-
Canonical SPDI
NC_000013.11:32398281:AAA:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1566260997
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Jul 1, 2019 RCV000779931.3
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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 pathogenic
(May 29, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000916872.1
Submitted: (Apr 24, 2019)
Evidence details
Comment:
Variant summary: BRCA2 c.9770_9771delAA (p.Lys3257ArgfsX2) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Jul 01, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV001388053.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change results in a premature translational stop signal in the BRCA2 gene (p.Lys3257Argfs*3). While this is not anticipated to result in nonsense mediated … (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
BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. Alsop K Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2012 PMID: 22711857
Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2. Kuznetsov SG Nature medicine 2008 PMID: 18607349
A syngeneic variance library for functional annotation of human variation: application to BRCA2. Hucl T Cancer research 2008 PMID: 18593900
Inherited association of breast and colorectal cancer: limited role of CHEK2 compared with high-penetrance genes. Naseem H Clinical genetics 2006 PMID: 17026620

Text-mined citations for rs1566260997...

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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