NM_000059.3(BRCA2):c.10220A>G (p.Asn3407Ser) AND Breast-ovarian cancer, familial 2

Clinical significance:Uncertain significance (Last evaluated: Mar 3, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000112850.1

Allele description [Variation Report for NM_000059.3(BRCA2):c.10220A>G (p.Asn3407Ser)]

NM_000059.3(BRCA2):c.10220A>G (p.Asn3407Ser)

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.10220A>G (p.Asn3407Ser)
Other names:
p.N3407S:AAT>AGT
HGVS:
  • NC_000013.11:g.32398733A>G
  • NG_012772.3:g.88254A>G
  • NM_000059.3:c.10220A>G
  • NP_000050.2:p.Asn3407Ser
  • LRG_293t1:c.10220A>G
  • LRG_293:g.88254A>G
  • LRG_293p1:p.Asn3407Ser
  • NC_000013.10:g.32972870A>G
  • U43746.1:n.10448A>G
  • p.N3407S
Protein change:
N3407S
Links:
dbSNP: rs80358401
NCBI 1000 Genomes Browser:
rs80358401
Molecular consequence:
  • NM_000059.3:c.10220A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000145767Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedUncertain significancegermlineclinical testing

SCV000488149Counsylcriteria provided, single submitter
Uncertain significance
(Mar 3, 2016)
unknownclinical testing

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

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Citations

PubMed

An integrated in silico approach to analyze the involvement of single amino acid polymorphisms in FANCD1/BRCA2-PALB2 and FANCD1/BRCA2-RAD51 complex.

Doss CG, Nagasundaram N.

Cell Biochem Biophys. 2014 Nov;70(2):939-56. doi: 10.1007/s12013-014-0002-9.

PubMed [citation]
PMID:
24817641

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000145767.1

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

From Counsyl, SCV000488149.1

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

Last Updated: Jun 14, 2021

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