NM_000059.4(BRCA2):c.7459_7484del (p.Asn2486_Ala2487insTer) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 21, 2016
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:: RCV000481992.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.7459_7484del (p.Asn2486_Ala2487insTer)]

NM_000059.4(BRCA2):c.7459_7484del (p.Asn2486_Ala2487insTer)

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.7459_7484del (p.Asn2486_Ala2487insTer)

HGVS:

NC_000013.11:g.32356451_32356476del
NG_012772.3:g.45972_45997del
NM_000059.4:c.7459_7484delMANE SELECT
NP_000050.2:p.Asn2486_Ala2487insTer
NP_000050.3:p.Asn2486_Ala2487insTer
LRG_293t1:c.7459_7484del
LRG_293:g.45972_45997del
LRG_293p1:p.Asn2486_Ala2487insTer
NC_000013.10:g.32930584_32930609del
NC_000013.10:g.32930588_32930613del
NM_000059.3:c.7459_7484del
NM_000059.3:c.7459_7484del26
NM_000059.3:c.7459_7484delGCCAGAGATATACAGGATATGCGAAT
p.(Ala2487Ter)

Links:

dbSNP: rs1064795884

NCBI 1000 Genomes Browser:

rs1064795884

Molecular consequence:

NM_000059.4:c.7459_7484del - 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
SCV000572106	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Oct 21, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000572106

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Oct 21, 2016)

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, SCV000572106.4

#	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 26 nucleotides is denoted BRCA2 c.7459_7484del26 at the cDNA level and p.Ala2487Ter (A2487X) at the protein level. The normal sequence, with the bases that are deleted in braces, is GAAT[del26]TAAG. The deletion creates a nonsense variant, which changes an Alanine to a premature stop codon. Although this variant has not been previously reported to our knowledge, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay, 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: Sep 29, 2024

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