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NM_000059.4(BRCA2):c.4099A>C (p.Lys1367Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 8, 2023
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:
RCV003477014.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.4099A>C (p.Lys1367Gln)]

NM_000059.4(BRCA2):c.4099A>C (p.Lys1367Gln)

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.4099A>C (p.Lys1367Gln)
HGVS:
  • NC_000013.11:g.32338454A>C
  • NG_012772.3:g.27975A>C
  • NM_000059.4:c.4099A>CMANE SELECT
  • NM_001406719.1:c.4099A>C
  • NM_001406720.1:c.4099A>C
  • NP_000050.2:p.Lys1367Gln
  • NP_000050.3:p.Lys1367Gln
  • NP_001393648.1:p.Lys1367Gln
  • NP_001393649.1:p.Lys1367Gln
  • LRG_293t1:c.4099A>C
  • LRG_293:g.27975A>C
  • LRG_293p1:p.Lys1367Gln
  • NC_000013.10:g.32912591A>C
  • NM_000059.3:c.4099A>C
  • NM_000059.3:c.4099A>C
  • NR_176251.1:n.4298A>C
Protein change:
K1367Q
Molecular consequence:
  • NM_000059.4:c.4099A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406719.1:c.4099A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406720.1:c.4099A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004219613Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Aug 8, 2023) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Dines JN, Shirts BH, Slavin TP, Walsh T, King MC, Fowler DM, Pritchard CC.

Genet Med. 2020 May;22(5):825-830. doi: 10.1038/s41436-019-0740-6. Epub 2020 Jan 8.

PubMed [citation]
PMID:
31911673
PMCID:
PMC7200594

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

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004219613.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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

Last Updated: Sep 29, 2024