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NM_000059.4(BRCA2):c.9127G>T (p.Glu3043Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 26, 2017
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:
RCV000130444.13

Allele description [Variation Report for NM_000059.4(BRCA2):c.9127G>T (p.Glu3043Ter)]

NM_000059.4(BRCA2):c.9127G>T (p.Glu3043Ter)

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.9127G>T (p.Glu3043Ter)
HGVS:
  • NC_000013.11:g.32380016G>T
  • NG_012772.3:g.69537G>T
  • NM_000059.4:c.9127G>TMANE SELECT
  • NP_000050.2:p.Glu3043Ter
  • NP_000050.3:p.Glu3043Ter
  • LRG_293t1:c.9127G>T
  • LRG_293:g.69537G>T
  • LRG_293p1:p.Glu3043Ter
  • NC_000013.10:g.32954153G>T
  • NM_000059.3:c.9127G>T
  • p.E3043*
Nucleotide change:
9355G>T
Protein change:
E3043*
Links:
dbSNP: rs398122610
NCBI 1000 Genomes Browser:
rs398122610
Molecular consequence:
  • NM_000059.4:c.9127G>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000185308Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(Apr 26, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000185308.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.E3043* pathogenic mutation (also known as c.9127G>T), located in coding exon 23 of the BRCA2 gene, results from a G to T substitution at nucleotide position 9127. This changes the amino acid from a glutamic acid to a stop codon within coding exon 23. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024