NM_000059.4(BRCA2):c.2754C>T (p.Asn918=) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 20, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000420191.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.2754C>T (p.Asn918=)]

NM_000059.4(BRCA2):c.2754C>T (p.Asn918=)

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.2754C>T (p.Asn918=)

HGVS:

NC_000013.11:g.32337109C>T
NG_012772.3:g.26630C>T
NM_000059.4:c.2754C>TMANE SELECT
NP_000050.2:p.Asn918=
NP_000050.3:p.Asn918=
LRG_293t1:c.2754C>T
LRG_293:g.26630C>T
LRG_293p1:p.Asn918=
NC_000013.10:g.32911246C>T
NM_000059.3:c.2754C>T
p.N918N

Links:

dbSNP: rs753073979

NCBI 1000 Genomes Browser:

rs753073979

Molecular consequence:

NM_000059.4:c.2754C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001338089	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Jan 20, 2020)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21702907, 21318380 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001338089

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely benign
(Jan 20, 2020)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Hondow HL, Fox SB, Mitchell G, Scott RJ, Beshay V, Wong SQ; kConFab Investigators., Dobrovic A.

BMC Cancer. 2011 Jun 24;11:265. doi: 10.1186/1471-2407-11-265.

PubMed [citation]

PMID:: 21702907
PMCID:: PMC3146935

Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations.

Hansen TV, Jønson L, Steffensen AY, Andersen MK, Kjaergaard S, Gerdes AM, Ejlertsen B, Nielsen FC.

Fam Cancer. 2011 Jun;10(2):207-12. doi: 10.1007/s10689-011-9422-5.

PubMed [citation]

PMID:: 21318380

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001338089.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine