NM_000059.4(BRCA2):c.3830del (p.Asn1277fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 27, 2019
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:: RCV002354228.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.3830del (p.Asn1277fs)]

NM_000059.4(BRCA2):c.3830del (p.Asn1277fs)

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.3830del (p.Asn1277fs)

HGVS:

NC_000013.11:g.32338185del
NG_012772.3:g.27706del
NM_000059.4:c.3830delMANE SELECT
NM_000059.4:c.3830delA
NP_000050.3:p.Asn1277fs
LRG_293:g.27706del
NC_000013.10:g.32912319del
NC_000013.10:g.32912322del
NM_000059.3:c.3830delA
p.(Asn1277IlefsTer7)

Protein change:

N1277fs

Links:

dbSNP: rs397507689

NCBI 1000 Genomes Browser:

rs397507689

Molecular consequence:

NM_000059.4:c.3830del - 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
SCV002621639	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Apr 27, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 12624724, 15168169, 15375703 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002621639

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Apr 27, 2019)

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

Evaluation of the diagnostic accuracy of the stop codon (SC) assay for identifying protein-truncating mutations in the BRCA1and BRCA2genes in familial breast cancer.

Sakayori M, Kawahara M, Shiraishi K, Nomizu T, Shimada A, Kudo T, Abe R, Ohuchi N, Takenoshita S, Kanamaru R, Ishioka C.

J Hum Genet. 2003;48(3):130-7.

PubMed [citation]

PMID:: 12624724

Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families.

Kawahara M, Sakayori M, Shiraishi K, Nomizu T, Takeda M, Abe R, Ohuchi N, Takenoshita S, Ishioka C.

J Hum Genet. 2004;49(7):391-395. doi: 10.1007/s10038-004-0160-5. Epub 2004 May 27.

PubMed [citation]

PMID:: 15168169

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002621639.2

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

Description

The c.3830delA pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 3830, causing a translational frameshift with a predicted alternate stop codon (p.N1277Ifs*7). This mutation (designated as 3830delA) was observed in a cohort of patients with a personal and family history of breast cancer (Sakayori M et al. J. Hum. Genet. 2003;48:130-7). 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: Nov 3, 2024

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