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

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV001535691.10

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:
Fanconi anemia complementation group D1
Identifiers:
MONDO: MONDO:0011584; MedGen: C1838457; OMIM: 605724
Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749767GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749767.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Pathogenic and reported on 07-20-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 8, 2024