NM_000059.4(BRCA2):c.8648del (p.Pro2883fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 27, 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:: RCV001854946.14

Allele description [Variation Report for NM_000059.4(BRCA2):c.8648del (p.Pro2883fs)]

NM_000059.4(BRCA2):c.8648del (p.Pro2883fs)

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.8648del (p.Pro2883fs)

Other names:

8875delC

HGVS:

NC_000013.11:g.32376685del
NG_012772.3:g.66206del
NM_000059.4:c.8648delMANE SELECT
NM_000059.4:c.8648delC
NP_000050.3:p.Pro2883fs
LRG_293:g.66206del
NC_000013.10:g.32950821del
NC_000013.10:g.32950822del
NM_000059.3:c.8648delC
U43746.1:n.8875delC

Protein change:

P2883fs

Links:

Breast Cancer Information Core (BIC) (BRCA2): 8875&base_change=del C; dbSNP: rs276174910

NCBI 1000 Genomes Browser:

rs276174910

Molecular consequence:

NM_000059.4:c.8648del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002238427	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 27, 2021)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 18097605, 25330149, 20104584, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002238427

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 27, 2021)

germline

clinical testing

PubMed (4)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland.

Ratajska M, Brozek I, Senkus-Konefka E, Jassem J, Stepnowska M, Palomba G, Pisano M, Casula M, Palmieri G, Borg A, Limon J.

Oncol Rep. 2008 Jan;19(1):263-8.

PubMed [citation]

PMID:: 18097605

Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

Cybulski C, Lubiński J, Wokołorczyk D, Kuźniak W, Kashyap A, Sopik V, Huzarski T, Gronwald J, Byrski T, Szwiec M, Jakubowska A, Górski B, Dębniak T, Narod SA, Akbari MR.

Clin Genet. 2015 Oct;88(4):366-70. doi: 10.1111/cge.12524. Epub 2014 Nov 13.

PubMed [citation]

PMID:: 25330149

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002238427.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with breast cancer (PMID: 18097605, 25330149). ClinVar contains an entry for this variant (Variation ID: 254626). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro2883Hisfs*8) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584).

#	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 20, 2024

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