NM_000059.4(BRCA2):c.9946G>T (p.Glu3316Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 15, 2023
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:: RCV001019921.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.9946G>T (p.Glu3316Ter)]

NM_000059.4(BRCA2):c.9946G>T (p.Glu3316Ter)

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.9946G>T (p.Glu3316Ter)

HGVS:

NC_000013.11:g.32398459G>T
NG_012772.3:g.87980G>T
NM_000059.4:c.9946G>TMANE SELECT
NP_000050.2:p.Glu3316Ter
NP_000050.3:p.Glu3316Ter
LRG_293t1:c.9946G>T
LRG_293:g.87980G>T
LRG_293p1:p.Glu3316Ter
NC_000013.10:g.32972596G>T
NM_000059.3:c.9946G>T

Protein change:

E3316*

Links:

dbSNP: rs758051959

NCBI 1000 Genomes Browser:

rs758051959

Molecular consequence:

NM_000059.4:c.9946G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001181337	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 15, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001181337

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 15, 2023)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001181337.4

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

Description

The p.E3316* variant (also known as c.9946G>T), located in coding exon 26 of the BRCA2 gene, results from a G to T substitution at nucleotide position 9946. This changes the amino acid from a glutamic acid to a stop codon within coding exon 26. Premature stop codons are typically deleterious in nature, however, this stop codon occurs at the 3' terminus of BRCA2, is not expected to trigger nonsense-mediated mRNA decay, and removes only the last 102 amino acids of the protein. The exact functional impact of these removed amino acids is unknown at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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