NM_000059.4(BRCA2):c.2636_2637del (p.Asp878_Ser879insTer) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 12, 2018
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:: RCV000657806.9

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]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000779561	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Feb 12, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000779561

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Feb 12, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000779561.2

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

Description

This deletion of two nucleotides is denoted BRCA2 c.2636_2637delCT at the cDNA level and p.Ser879Ter (S879X) at the protein level. The normal sequence, with the bases that are deleted in brackets, is GACT[delCT]GAAG. The deletion creates a nonsense variant, which changes a Serine to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Using alternate nomenclature this variant has been defined as BRCA2 c.2634delCT, BRCA2 2864_2865delCT, and BRCA2 2864delCT. BRCA2 c.2636_2637delCT has been observed in association with hereditary breast and ovarian cancer (Thirthagiri 2008, Toh 2008, Heramb 2018). This variant is considered pathogenic.

#	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		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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