NM_000059.4(BRCA2):c.2657del (p.Asn886fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 29, 2021
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:: RCV002429203.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.2657del (p.Asn886fs)]

NM_000059.4(BRCA2):c.2657del (p.Asn886fs)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.2657del (p.Asn886fs)

Other names:

2885delA

HGVS:

NC_000013.11:g.32337012del
NG_012772.3:g.26533del
NM_000059.4:c.2657delMANE SELECT
NP_000050.3:p.Asn886fs
LRG_293:g.26533del
NC_000013.10:g.32911148del
NC_000013.10:g.32911149del
NM_000059.3:c.2657delA
p.Asn886fs

Links:

dbSNP: rs886040439

NCBI 1000 Genomes Browser:

rs886040439

Molecular consequence:

NM_000059.4:c.2657del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002743788	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jun 29, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25863477, 26187060, 29446198 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002743788

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jun 29, 2021)

germline

clinical testing

PubMed (3)
[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

The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

Kang E, Seong MW, Park SK, Lee JW, Lee J, Kim LS, Lee JE, Kim SY, Jeong J, Han SA, Kim SW; Korean Hereditary Breast Cancer Study Group..

Breast Cancer Res Treat. 2015 May;151(1):157-68. doi: 10.1007/s10549-015-3377-4. Epub 2015 Apr 12.

PubMed [citation]

PMID:: 25863477

Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.

Kwong A, Shin VY, Ho JC, Kang E, Nakamura S, Teo SH, Lee AS, Sng JH, Ginsburg OM, Kurian AW, Weitzel JN, Siu MT, Law FB, Chan TL, Narod SA, Ford JM, Ma ES, Kim SW.

J Med Genet. 2016 Jan;53(1):15-23. doi: 10.1136/jmedgenet-2015-103132. Epub 2015 Jul 17. Review.

PubMed [citation]

PMID:: 26187060
PMCID:: PMC4681590

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002743788.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The c.2657delA pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 2657, causing a translational frameshift with a predicted alternate stop codon (p.N886Mfs*9). This variant has been identified in multiple worldwide breast and ovarian cancer families (Kwong A et al. J Med Genet, 2016 Jan;53:15-23; Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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: Oct 26, 2024

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