NM_007294.3(BRCA1):c.2722G>T (p.Glu908Ter) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 2015
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:: RCV000074576.6

Allele description

NM_007294.3(BRCA1):c.2722G>T (p.Glu908Ter)

Gene:

BRCA1:BRCA1, DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.3(BRCA1):c.2722G>T (p.Glu908Ter)

HGVS:

NC_000017.11:g.43092809C>A
NG_005905.2:g.125175G>T
NM_007294.3:c.2722G>T
NM_007298.3:c.788-1777G>T
NP_009225.1:p.Glu908Ter
LRG_292t1:c.2722G>T
LRG_292:g.125175G>T
LRG_292p1:p.Glu908Ter
NC_000017.10:g.41244826C>A
NR_027676.1:n.2858G>T
U14680.1:n.2841G>T
p.E908*
p.E908*:GAA>TAA
p.Glu908*
p.Glu908Stop

Nucleotide change:

2841G>T

Protein change:

E908*

Links:

dbSNP: rs80356978

NCBI 1000 Genomes Browser:

rs80356978

Allele Frequency:

0.0001, GO-ESP

Molecular consequence:

NM_007298.3:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NR_027676.1:n.2858G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_007294.3:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:: MedGen: CN221809

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000108661	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Sep 1, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000108661

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Sep 1, 2015)

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, SCV000108661.5

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

Description

This pathogenic variant is denoted BRCA1 c.2722G>T at the cDNA level or p.Glu908Ter (E908X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic acid to a premature stop codon (GAA>TAA), and is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. BRCA1 Glu908Ter, previously reported as 2841G>T using alternate nomenclature, has been observed in association with familial breast and ovarian cancer (Serova 1996, Sugano 2008, Walsh 2011, Boukerroucha 2015) and 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: Oct 3, 2016

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