NM_000059.4(BRCA2):c.2606C>G (p.Ser869Ter) AND not specified

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 23, 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:: RCV001800616.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.2606C>G (p.Ser869Ter)]

NM_000059.4(BRCA2):c.2606C>G (p.Ser869Ter)

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.2606C>G (p.Ser869Ter)

HGVS:

NC_000013.11:g.32336961C>G
NG_012772.3:g.26482C>G
NM_000059.4:c.2606C>GMANE SELECT
NP_000050.2:p.Ser869Ter
NP_000050.3:p.Ser869Ter
LRG_293t1:c.2606C>G
LRG_293:g.26482C>G
LRG_293p1:p.Ser869Ter
NC_000013.10:g.32911098C>G
NM_000059.3:c.2606C>G
p.Ser869X

Nucleotide change:

2834C>G

Protein change:

S869X

Links:

dbSNP: rs80358523

NCBI 1000 Genomes Browser:

rs80358523

Molecular consequence:

NM_000059.4:c.2606C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002046169	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Apr 23, 2021)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 29446198, 29791287, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002046169

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(Apr 23, 2021)

unknown

clinical testing

PubMed (3)
[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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]

PMID:: 29446198
PMCID:: PMC5903938

BRCA1/2 Mutations and Bevacizumab in the Neoadjuvant Treatment of Breast Cancer: Response and Prognosis Results in Patients With Triple-Negative Breast Cancer From the GeparQuinto Study.

Fasching PA, Loibl S, Hu C, Hart SN, Shimelis H, Moore R, Schem C, Tesch H, Untch M, Hilfrich J, Rezai M, Gerber B, Costa SD, Blohmer JU, Fehm T, Huober J, Liedtke C, Weinshilboum RM, Wang L, Ingle JN, Müller V, Nekljudova V, et al.

J Clin Oncol. 2018 Aug 1;36(22):2281-2287. doi: 10.1200/JCO.2017.77.2285. Epub 2018 May 23.

PubMed [citation]

PMID:: 29791287
PMCID:: PMC6067803

See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002046169.1

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

Description

This nonsense variant causes the premature termination of BRCA2 protein synthesis. In addition, it has been reported in individuals/families with breast cancer and HBOC in the published literature (PMID: 29446198 (2018), 29791287 (2018)). This variant has not been reported in large, multi-ethnic general populations. Based on the available information, this variant is classified as pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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