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NM_000059.4(BRCA2):c.3653dup (p.Phe1219fs) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 26, 2023
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:
RCV003452706.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.3653dup (p.Phe1219fs)]

NM_000059.4(BRCA2):c.3653dup (p.Phe1219fs)

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.3653dup (p.Phe1219fs)
HGVS:
  • NC_000013.11:g.32338008dup
  • NG_012772.3:g.27529dup
  • NM_000059.4:c.3653dupMANE SELECT
  • NM_001406719.1:c.3653dup
  • NM_001406720.1:c.3653dup
  • NM_001406721.1:c.1909+4621dup
  • NM_001406722.1:c.425-6550dup
  • NP_000050.2:p.Phe1219Leufs
  • NP_000050.3:p.Phe1219fs
  • NP_001393648.1:p.Phe1219fs
  • NP_001393649.1:p.Phe1219fs
  • LRG_293t1:c.3653dup
  • LRG_293:g.27529dup
  • LRG_293p1:p.Phe1219Leufs
  • NC_000013.10:g.32912145dup
  • NM_000059.3:c.3653dup
  • NR_176251.1:n.3852dup
Protein change:
F1219fs
Molecular consequence:
  • NM_000059.4:c.3653dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406719.1:c.3653dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406720.1:c.3653dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406721.1:c.1909+4621dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406722.1:c.425-6550dup - intron variant - [Sequence Ontology: SO:0001627]
  • NR_176251.1:n.3852dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004186321Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Jul 26, 2023) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004186321.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Sep 1, 2024