NM_000059.3(BRCA2):c.4830G>A (p.Val1610=) 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:
RCV000113348.2

Allele description [Variation Report for NM_000059.3(BRCA2):c.4830G>A (p.Val1610=)]

NM_000059.3(BRCA2):c.4830G>A (p.Val1610=)

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.4830G>A (p.Val1610=)
Other names:
5058G/A
HGVS:
  • NC_000013.11:g.32339185G>A
  • NG_012772.3:g.28706G>A
  • NM_000059.3:c.4830G>A
  • NP_000050.2:p.Val1610=
  • LRG_293t1:c.4830G>A
  • LRG_293:g.28706G>A
  • LRG_293p1:p.Val1610=
  • NC_000013.10:g.32913322G>A
  • U43746.1:n.5058G>A
Links:
Breast Cancer Information Core (BIC) (BRCA2): 5058&base_change=G to A; dbSNP: rs80359789
NCBI 1000 Genomes Browser:
rs80359789
Molecular consequence:
  • NM_000059.3:c.4830G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000146490Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedUncertain significance
(Nov 30, 1998)
germlineclinical testing

SCV000579115Evidence-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

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146490.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not 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), SCV000579115.2

#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: Jun 18, 2021

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