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NM_000059.4(BRCA2):c.2526A>G (p.Val842=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 10, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001193281.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.2526A>G (p.Val842=)]

NM_000059.4(BRCA2):c.2526A>G (p.Val842=)

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.2526A>G (p.Val842=)
HGVS:
  • NC_000013.11:g.32336881A>G
  • NG_012772.3:g.26402A>G
  • NM_000059.4:c.2526A>GMANE SELECT
  • NP_000050.2:p.Val842=
  • NP_000050.3:p.Val842=
  • LRG_293t1:c.2526A>G
  • LRG_293:g.26402A>G
  • LRG_293p1:p.Val842=
  • NC_000013.10:g.32911018A>G
  • NM_000059.3:c.2526A>G
  • p.V842V
Links:
dbSNP: rs770778164
NCBI 1000 Genomes Browser:
rs770778164
Molecular consequence:
  • NM_000059.4:c.2526A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001362015Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Jul 10, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001362015.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024