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

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Jan 28, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000043861.21

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_000059.4: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
NM_000059.3:c.167A>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_000059.4:c.167A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000210658	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jan 28, 2021)	germline	clinical testing	Citation Link,
SCV000600482	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Jul 30, 2019)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 17924331, 10882858, 21990134, 24323938, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000210658

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jan 28, 2021)

germline

clinical testing

Citation Link,

SCV000600482

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely benign
(Jul 30, 2019)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600482.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 20, 2024

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