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NM_000059.4(BRCA2):c.9145dup (p.Tyr3049fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 19, 2021
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:
RCV002375320.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.9145dup (p.Tyr3049fs)]

NM_000059.4(BRCA2):c.9145dup (p.Tyr3049fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.9145dup (p.Tyr3049fs)
HGVS:
  • NC_000013.11:g.32380034dup
  • NG_012772.3:g.69555dup
  • NM_000059.3:c.9145dupT
  • NM_000059.4:c.9145dupMANE SELECT
  • NP_000050.3:p.Tyr3049fs
  • LRG_293t1:c.9143dup
  • LRG_293:g.69555dup
  • NC_000013.10:g.32954171dup
  • NM_000059.3:c.9143dupT
  • NM_000059.3:c.9145dupT
Protein change:
Y3049fs
Links:
dbSNP: rs2072912874
NCBI 1000 Genomes Browser:
rs2072912874
Molecular consequence:
  • NM_000059.4:c.9145dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002686102Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Aug 19, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.

Machackova E, Claes K, Mikova M, Házová J, Sťahlová EH, Vasickova P, Trbusek M, Navrátilová M, Svoboda M, Foretová L.

Klin Onkol. 2019 Summer;32(Supplementum2):51-71. doi: 10.14735/amko2019S51. Review.

PubMed [citation]
PMID:
31409081

Details of each submission

From Ambry Genetics, SCV002686102.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.9145dupT pathogenic mutation, located in coding exon 23 of the BRCA2 gene, results from a duplication of T at nucleotide position 9145, causing a translational frameshift with a predicted alternate stop codon (p.Y3049Lfs*23). This alteration was detected in 1/7400 high-risk Czech breast/ ovarian cancer families (Machackova E et al. Klin Onkol. 2019;32:51-71). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024