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NM_000059.4(BRCA2):c.2528C>T (p.Ala843Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 9, 2017
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:
RCV000781048.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.2528C>T (p.Ala843Val)]

NM_000059.4(BRCA2):c.2528C>T (p.Ala843Val)

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.2528C>T (p.Ala843Val)
HGVS:
  • NC_000013.11:g.32336883C>T
  • NG_012772.3:g.26404C>T
  • NM_000059.4:c.2528C>TMANE SELECT
  • NP_000050.2:p.Ala843Val
  • NP_000050.3:p.Ala843Val
  • LRG_293t1:c.2528C>T
  • LRG_293:g.26404C>T
  • LRG_293p1:p.Ala843Val
  • NC_000013.10:g.32911020C>T
  • NM_000059.3:c.2528C>T
  • U43746.1:n.2756C>T
Protein change:
A843V
Links:
dbSNP: rs80358517
NCBI 1000 Genomes Browser:
rs80358517
Molecular consequence:
  • NM_000059.4:c.2528C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000918828Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Oct 9, 2017) 		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, SCV000918828.1

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

Description

Variant summary: The BRCA2 c.2528C>T (p.Ala843Val) variant involves the alteration of a non-conserved nucleotide, leading to an amino acid substitution in a protein region that is not located in any known domain. Since alanine and valine share similar size and physicochemical properties, this substitution is considered a conservative amino acid change. 3/5 in silico tools predict a benign outcome for this variant. This variant is absent in 273524 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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

Last Updated: Nov 10, 2024