NM_000059.4(BRCA2):c.2927_2929del (p.Ser976del) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jun 12, 2022
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:: RCV000044088.7

Allele description [Variation Report for NM_000059.4(BRCA2):c.2927_2929del (p.Ser976del)]

NM_000059.4(BRCA2):c.2927_2929del (p.Ser976del)

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.2927_2929del (p.Ser976del)

HGVS:

NC_000013.11:g.32337282_32337284del
NG_012772.3:g.26803_26805del
NM_000059.4:c.2927_2929delMANE SELECT
NP_000050.2:p.Ser976del
NP_000050.3:p.Ser976del
LRG_293t1:c.2927_2929del
LRG_293:g.26803_26805del
LRG_293p1:p.Ser976del
NC_000013.10:g.32911417_32911419del
NC_000013.10:g.32911419_32911421del
NM_000059.3:c.2927_2929del
NM_000059.3:c.2927_2929delCCT
U43746.1:n.3155_3157delCCT
p.S976del

Protein change:

S976del

Links:

dbSNP: rs80359363

NCBI 1000 Genomes Browser:

rs80359363

Molecular consequence:

NM_000059.4:c.2927_2929del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000210726	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 12, 2022)	germline	clinical testing	Citation Link,
SCV002046482	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Dec 4, 2020)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 19941162, 17262179, 30287823, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000210726

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 12, 2022)

germline

clinical testing

Citation Link,

SCV002046482

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Dec 4, 2020)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays.

Schroeder C, Stutzmann F, Weber BH, Riess O, Bonin M.

Breast Cancer Res Treat. 2010 Jul;122(1):287-97. doi: 10.1007/s10549-009-0639-z. Epub 2009 Nov 26.

PubMed [citation]

PMID:: 19941162

Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling.

Beristain E, Martínez-Bouzas C, Guerra I, Viguera N, Moreno J, Ibañez E, Díez J, Rodríguez F, Mallabiabarrena G, Luján S, Gorostiaga J, De Pablo JL, Mendizabal JL, Tejada MI.

Breast Cancer Res Treat. 2007 Dec;106(2):255-62. Epub 2007 Jan 30.

PubMed [citation]

PMID:: 17262179

See all PubMed Citations (4)

Details of each submission

From GeneDx, SCV000210726.8

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Observed in an individual with breast cancer in published literature (Beristain 2007); Also known as 3155_3157delCCT; 3155_3157del; This variant is associated with the following publications: (PMID: 19941162, 20054658, 23929434, 31131967, 30287823, 17262179)

#	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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002046482.1

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

#	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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