NM_000059.3(BRCA2):c.7651A>C (p.Lys2551Gln) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 21, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000589630.2

Allele description [Variation Report for NM_000059.3(BRCA2):c.7651A>C (p.Lys2551Gln)]

NM_000059.3(BRCA2):c.7651A>C (p.Lys2551Gln)

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.7651A>C (p.Lys2551Gln)
Other names:
p.K2551Q:AAA>CAA
HGVS:
  • NC_000013.11:g.32357775A>C
  • NG_012772.3:g.47296A>C
  • NM_000059.3:c.7651A>C
  • NP_000050.2:p.Lys2551Gln
  • LRG_293t1:c.7651A>C
  • LRG_293:g.47296A>C
  • LRG_293p1:p.Lys2551Gln
  • NC_000013.10:g.32931912A>C
  • p.K2551Q
Nucleotide change:
7879A>C
Protein change:
K2551Q
Links:
dbSNP: rs398122587
NCBI 1000 Genomes Browser:
rs398122587
Molecular consequence:
  • NM_000059.3:c.7651A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000600763Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(Aug 21, 2019)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV000695090Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Apr 4, 2016)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Summary from all submissions

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

Citations

PubMed

A Bayesian framework for efficient and accurate variant prediction.

Qian D, Li S, Tian Y, Clifford JW, Sarver BAJ, Pesaran T, Gau CL, Elliott AM, Lu HM, Black MH.

PLoS One. 2018;13(9):e0203553. doi: 10.1371/journal.pone.0203553.

PubMed [citation]
PMID:
30212499
PMCID:
PMC6136750

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317
See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600763.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000695090.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant Summary: The c.7651A>C variant involves the alteration of a non-conserved nucleotide and 4/4 in silico tools predict a neutral outcome. The variant is absent from the large, broad ExAC control population. 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. Multiple reputable clinical labs have classified the variant as "likely benign", without evidence to independently evaluate. Because of the absence of clinical information and the lack of functional studies, the variant was 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: Jun 14, 2021

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