NM_000059.3(BRCA2):c.3451A>G (p.Ile1151Val) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Feb 23, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000502245.3

Allele description [Variation Report for NM_000059.3(BRCA2):c.3451A>G (p.Ile1151Val)]

NM_000059.3(BRCA2):c.3451A>G (p.Ile1151Val)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.3451A>G (p.Ile1151Val)
HGVS:
  • NC_000013.11:g.32337806A>G
  • NG_012772.3:g.27327A>G
  • NM_000059.3:c.3451A>G
  • NP_000050.2:p.Ile1151Val
  • LRG_293t1:c.3451A>G
  • LRG_293:g.27327A>G
  • LRG_293p1:p.Ile1151Val
  • NC_000013.10:g.32911943A>G
  • U43746.1:n.3679A>G
Nucleotide change:
3679A>G
Protein change:
I1151V
Links:
dbSNP: rs80358591
NCBI 1000 Genomes Browser:
rs80358591
Molecular consequence:
  • NM_000059.3:c.3451A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000916861Integrated Genetics/Laboratory Corporation of Americacriteria provided, single submitter
Uncertain significance
(Feb 23, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Integrated Genetics/Laboratory Corporation of America, SCV000916861.1

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

Description

Variant summary: BRCA2 c.3451A>G (p.Ile1151Val) alters a non-conserved nucleotide resulting in a conservative amino acid change in the BRCA2 repeat region (IPR002093) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.1e-06 in 245786 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3451A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Apr 18, 2021

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