NM_000059.4(BRCA2):c.167A>C (p.Asn56Thr) AND not provided

Clinical significance:Likely benign (Last evaluated: Jan 28, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000043861.12

Allele description [Variation Report for NM_000059.4(BRCA2):c.167A>C (p.Asn56Thr)]

NM_000059.4(BRCA2):c.167A>C (p.Asn56Thr)

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.167A>C (p.Asn56Thr)
Other names:
p.N56T:AAT>ACT
HGVS:
  • NC_000013.11:g.32319176A>C
  • NG_012772.3:g.8697A>C
  • NG_017006.2:g.1188T>G
  • NM_000059.3:c.167A>C
  • NM_000059.4:c.167A>CMANE SELECT
  • NP_000050.2:p.Asn56Thr
  • NP_000050.3:p.Asn56Thr
  • LRG_293t1:c.167A>C
  • LRG_293:g.8697A>C
  • LRG_293p1:p.Asn56Thr
  • NC_000013.10:g.32893313A>C
  • U43746.1:n.395A>C
  • p.N56T
Nucleotide change:
395A>C
Protein change:
N56T
Links:
dbSNP: rs80358454
NCBI 1000 Genomes Browser:
rs80358454
Molecular consequence:
  • NM_000059.3:c.167A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000059.4:c.167A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000210658GeneDxcriteria provided, single submitter
Likely benign
(Jan 28, 2021)
germlineclinical testing

Citation Link,

SCV000600482Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Likely benign
(Jul 30, 2019)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE.

Am J Hum Genet. 2007 Nov;81(5):873-83. Epub 2007 Sep 6.

PubMed [citation]
PMID:
17924331
PMCID:
PMC2265654

Incidence of BRCA1/2 germ line alterations in a high risk cohort participating in a phase II chemoprevention trial.

Klemp J, Brady D, Frank TS, Kimler BF, Fabian CJ.

Eur J Cancer. 2000 Jun;36(10):1209-14.

PubMed [citation]
PMID:
10882858
See all PubMed Citations (5)

Details of each submission

From GeneDx, SCV000210658.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 28866612, 24323938, 21952622, 21990134, 17924331, 26898890, 32123317)

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600482.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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