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NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) AND Malignant tumor of breast

Germline classification:
Likely benign (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001353494.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.9720T>C (p.Val3240=)]

NM_000059.4(BRCA2):c.9720T>C (p.Val3240=)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=)
Other names:
V3240V; p.V3240V:GTT>GTC; NP_000050.3:p.Val3240=
HGVS:
  • NC_000013.11:g.32398233T>C
  • NG_012772.3:g.87754T>C
  • NM_000059.4:c.9720T>CMANE SELECT
  • NP_000050.2:p.Val3240=
  • NP_000050.3:p.Val3240=
  • LRG_293t1:c.9720T>C
  • LRG_293:g.87754T>C
  • LRG_293p1:p.Val3240=
  • NC_000013.10:g.32972370T>C
  • NM_000059.3:c.9720T>C
  • NM_000059.4:c.9720T>C
  • U43746.1:n.9948T>C
  • p.V3240V
  • p.Val3240Val
Links:
dbSNP: rs80359810
NCBI 1000 Genomes Browser:
rs80359810
Molecular consequence:
  • NM_000059.4:c.9720T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000592304Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Likely benignunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000592304.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BRCA2 p.Val3240Val variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site, and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. The variant was not identified in the literature, but was identified in the BIC database (5X as a variant with unknown clinical importance), and in dbSNP (ID: rs80359810) “With untested allele”. The variant was identified in the NHLBI Exome Sequencing Project (Exome Variant Server) in 10 of 4406 African American chromosomes (frequency: 0.002), increasing the likelihood that this may be a low frequency benign variant in certain populations of origin. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as predicted benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024