NM_000059.3(BRCA2):c.5153A>G (p.Asn1718Ser) AND Breast-ovarian cancer, familial 2

Clinical significance:Uncertain significance (Last evaluated: Jan 24, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000113388.1

Allele description [Variation Report for NM_000059.3(BRCA2):c.5153A>G (p.Asn1718Ser)]

NM_000059.3(BRCA2):c.5153A>G (p.Asn1718Ser)

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.5153A>G (p.Asn1718Ser)
HGVS:
  • NC_000013.11:g.32339508A>G
  • NG_012772.3:g.29029A>G
  • NM_000059.3:c.5153A>G
  • NP_000050.2:p.Asn1718Ser
  • LRG_293t1:c.5153A>G
  • LRG_293:g.29029A>G
  • LRG_293p1:p.Asn1718Ser
  • NC_000013.10:g.32913645A>G
  • U43746.1:n.5381A>G
Protein change:
N1718S
Links:
dbSNP: rs80358739
NCBI 1000 Genomes Browser:
rs80358739
Molecular consequence:
  • NM_000059.3:c.5153A>G - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000146548Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedUncertain significance
(Dec 23, 2003)
germlineclinical testing

SCV000784857Counsylcriteria provided, single submitter
Uncertain significance
(Jan 24, 2017)
unknownclinical testing

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146548.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Counsyl, SCV000784857.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 18, 2021

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