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NM_000059.4(BRCA2):c.7898C>T (p.Ala2633Val) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 18, 2022
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:
RCV002416599.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.7898C>T (p.Ala2633Val)]

NM_000059.4(BRCA2):c.7898C>T (p.Ala2633Val)

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.7898C>T (p.Ala2633Val)
HGVS:
  • NC_000013.11:g.32362615C>T
  • NG_012772.3:g.52136C>T
  • NM_000059.4:c.7898C>TMANE SELECT
  • NM_001406719.1:c.7802C>T
  • NM_001406720.1:c.7898C>T
  • NM_001406721.1:c.2966C>T
  • NM_001406722.1:c.1481C>T
  • NP_000050.2:p.Ala2633Val
  • NP_000050.3:p.Ala2633Val
  • NP_001393648.1:p.Ala2601Val
  • NP_001393649.1:p.Ala2633Val
  • NP_001393650.1:p.Ala989Val
  • NP_001393651.1:p.Ala494Val
  • LRG_293t1:c.7898C>T
  • LRG_293:g.52136C>T
  • LRG_293p1:p.Ala2633Val
  • NC_000013.10:g.32936752C>T
  • NM_000059.3:c.7898C>T
  • NR_176251.1:n.8097C>T
Protein change:
A2601V
Molecular consequence:
  • NM_000059.4:c.7898C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406719.1:c.7802C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406720.1:c.7898C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406721.1:c.2966C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406722.1:c.1481C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002681078Ambry Genetics
    criteria provided, single submitter

    (Ambry Variant Classification Scheme 2023)    		Uncertain significance
    (Sep 18, 2022)     		germlineclinical testing

    Citation Link

    Help

    Summary from all submissions

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

    Details of each submission

    From Ambry Genetics, SCV002681078.2

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

    Description

    The p.A2633V variant (also known as c.7898C>T), located in coding exon 16 of the BRCA2 gene, results from a C to T substitution at nucleotide position 7898. The alanine at codon 2633 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

    Last Updated: Sep 1, 2024