NM_000059.4(BRCA2):c.2636_2637del (p.Asp878_Ser879insTer) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 21, 2023
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:: RCV001047015.15

Allele description [Variation Report for NM_000059.4(BRCA2):c.2636_2637del (p.Asp878_Ser879insTer)]

NM_000059.4(BRCA2):c.2636_2637del (p.Asp878_Ser879insTer)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.2636_2637del (p.Asp878_Ser879insTer)

Other names:

2864delCT; NP_000050.3:p.Ser879Ter

HGVS:

NC_000013.11:g.32336989CT[1]
NG_012772.3:g.26510CT[1]
NM_000059.4:c.2636_2637delMANE SELECT
NP_000050.3:p.Asp878_Ser879insTer
LRG_293:g.26510CT[1]
NC_000013.10:g.32911126CT[1]
NC_000013.10:g.32911126_32911127del
NM_000059.3:c.2636_2637delCT
NM_000059.4:c.2636_2637del
U43746.1:n.2864_2865delCT

Links:

Breast Cancer Information Core (BIC) (BRCA2): 2864&base_change=del CT; dbSNP: rs276174826

NCBI 1000 Genomes Browser:

rs276174826

Molecular consequence:

NM_000059.4:c.2636_2637del - nonsense - [Sequence Ontology: SO:0001587]

Observations:

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
SCV001210944	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 21, 2023)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 18431501, 26187060, 27836010, 29339979, 20104584, 28492532
SCV002026080	National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 16, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001210944

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 21, 2023)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

SCV002026080

National Health Laboratory Service, Universitas Academic Hospital and University of the Free State

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 16, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	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

BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history.

Toh GT, Kang P, Lee SS, Lee DS, Lee SY, Selamat S, Mohd Taib NA, Yoon SY, Yip CH, Teo SH.

PLoS One. 2008 Apr 23;3(4):e2024. doi: 10.1371/journal.pone.0002024.

PubMed [citation]

PMID:: 18431501
PMCID:: PMC2295262

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 (7)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001210944.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 51318). This variant is also known as c.2634delCT. This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 18431501, 26187060, 27836010, 29339979). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser879*) 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

From National Health Laboratory Service, Universitas Academic Hospital and University of the Free State, SCV002026080.1

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

#	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		1	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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