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NM_000059.4(BRCA2):c.1273_1274del (p.Glu425fs) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 18, 2013
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000505606.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.1273_1274del (p.Glu425fs)]

NM_000059.4(BRCA2):c.1273_1274del (p.Glu425fs)

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.1273_1274del (p.Glu425fs)
HGVS:
  • NC_000013.11:g.32332751_32332752del
  • NG_012772.3:g.22272_22273del
  • NM_000059.4:c.1273_1274delMANE SELECT
  • NP_000050.3:p.Glu425fs
  • LRG_293:g.22272_22273del
  • NC_000013.10:g.32906888_32906889del
Protein change:
E425fs
Links:
dbSNP: rs1555281805
NCBI 1000 Genomes Browser:
rs1555281805
Molecular consequence:
  • NM_000059.4:c.1273_1274del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:
Breast-ovarian cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000599927Donald Williams Parsons Laboratory, Baylor College of Medicine - CSER-BASIC3

See additional submitters

no assertion criteria provided
Pathogenic
(May 18, 2013) 		paternalresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South East Asianpaternalyes11not providednot providedyesresearch

Citations

PubMed

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Petersen AK, Bavle A, Lin FY, López-Terrada DH, Monzon FA, Hicks MJ, Eldin KW, Quintanilla NM, Adesina AM, Mohila CA, Whitehead W, Jea A, Vasudevan SA, Nuchtern JG, et al.

JAMA Oncol. 2016 May 1;2(5):616-624. doi: 10.1001/jamaoncol.2015.5699.

PubMed [citation]
PMID:
26822237
PMCID:
PMC5471125

Details of each submission

From Donald Williams Parsons Laboratory, Baylor College of Medicine - CSER-BASIC3, SCV000599927.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South East Asian1not providedyesresearch
(GTR000508680.4)		 PubMed (1)

Description

This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in this study paternally inherited in a 1-year-old male with Ewing sarcoma, short stature, thrombocytopenia, mild anemia, and paternal family history of breast and ovarian cancer diagnosed in 60s.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot provided
(GTR000508680.4)		1not provided1not provided

Last Updated: Mar 30, 2024