NM_000059.4(BRCA2):c.1647G>A (p.Lys549=) AND Breast-ovarian cancer, familial 2

Clinical significance:Likely benign (Last evaluated: Jun 29, 2017)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000112949.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.1647G>A (p.Lys549=)]

NM_000059.4(BRCA2):c.1647G>A (p.Lys549=)

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.1647G>A (p.Lys549=)
Other names:
K549K
HGVS:
  • NC_000013.11:g.32333125G>A
  • NG_012772.3:g.22646G>A
  • NM_000059.4:c.1647G>AMANE SELECT
  • NP_000050.2:p.Lys549=
  • NP_000050.3:p.Lys549=
  • LRG_293t1:c.1647G>A
  • LRG_293:g.22646G>A
  • LRG_293p1:p.Lys549=
  • NC_000013.10:g.32907262G>A
  • NM_000059.3:c.1647G>A
  • U43746.1:n.1875G>A
Links:
dbSNP: rs276174812
NCBI 1000 Genomes Browser:
rs276174812
Molecular consequence:
  • NM_000059.4:c.1647G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000145906Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedBenign
(Sep 18, 2010)
germlineclinical testing

SCV000578807Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Likely benign
(Jun 29, 2017)
germlinecuration

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
Chinesegermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000145906.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinese1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000578807.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).

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

Last Updated: Dec 4, 2021

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