NM_000059.4(BRCA2):c.8915T>A (p.Leu2972Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 22, 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:: RCV000429396.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.8915T>A (p.Leu2972Ter)]

NM_000059.4(BRCA2):c.8915T>A (p.Leu2972Ter)

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.8915T>A (p.Leu2972Ter)

Other names:

9143T>A

HGVS:

NC_000013.11:g.32379477T>A
NG_012772.3:g.68998T>A
NM_000059.4:c.8915T>AMANE SELECT
NP_000050.2:p.Leu2972Ter
NP_000050.3:p.Leu2972Ter
LRG_293t1:c.8915T>A
LRG_293:g.68998T>A
LRG_293p1:p.Leu2972Ter
NC_000013.10:g.32953614T>A
NM_000059.3:c.8915T>A
p.Leu2972X

Protein change:

L2972*

Links:

dbSNP: rs80359142

NCBI 1000 Genomes Browser:

rs80359142

Molecular consequence:

NM_000059.4:c.8915T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000516799	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Apr 22, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000516799

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Apr 22, 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, SCV000516799.4

#	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 BRCA2 c.8915T>A at the cDNA level and p.Leu2972Ter (L2972X) at the protein level. The substitution, also known as 9143T>A, creates a nonsense variant, which changes a Leucine to a premature stop codon (TTG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it 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: Sep 29, 2024

ClinVar

Relating variation to medicine