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NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer) AND Rhabdomyosarcoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2020
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:
RCV001257546.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer)]

NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer)

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.462_463del (p.Arg155_Asp156insTer)
Other names:
690delAA
HGVS:
  • NC_000013.10:g.32900273_32900274del
  • NC_000013.11:g.32326137_32326138del
  • NG_012772.3:g.15658_15659del
  • NM_000059.4:c.462_463delMANE SELECT
  • NP_000050.3:p.Arg155_Asp156insTer
  • LRG_293:g.15658_15659del
  • NC_000013.10:g.32900273_32900274del
  • NC_000013.10:g.32900274_32900275del
  • NC_000013.10:g.32900274_32900275del
  • NC_000013.10:g.32900274_32900275delAA
  • NM_000059.3:c.461_462del
  • NM_000059.3:c.462_463delAA
  • NM_000059.4:c.462_463del
  • U43746.1:n.690_691delAA
Nucleotide change:
690DELAA
Links:
Breast Cancer Information Core (BIC) (BRCA2): 690&base_change=del AA; dbSNP: rs80359459
NCBI 1000 Genomes Browser:
rs80359459
Molecular consequence:
  • NM_000059.4:c.462_463del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Rhabdomyosarcoma
Synonyms:
Rhabdomyosarcoma (disease)
Identifiers:
MONDO: MONDO:0005212; MeSH: D012208; MedGen: C0035412; Human Phenotype Ontology: HP:0002859

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001434372Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
no assertion criteria provided
Pathogenic
(Sep 1, 2020) 		germlineprovider interpretation

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedprovider interpretation

Citations

PubMed

Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.

Li H, Sisoudiya SD, Martin-Giacalone BA, Khayat MM, Dugan-Perez S, Marquez-Do DA, Scheurer ME, Muzny D, Boerwinkle E, Gibbs RA, Chi YY, Barkauskas DA, Lo T, Hall D, Stewart DR, Schiffman JD, Skapek SX, Hawkins DS, Plon SE, Sabo A, Lupo PJ.

J Natl Cancer Inst. 2021 Jul 1;113(7):875-883. doi: 10.1093/jnci/djaa204.

PubMed [citation]
PMID:
33372952
PMCID:
PMC8246828

Details of each submission

From Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine, SCV001434372.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretation PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024