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NM_000059.4(BRCA2):c.3512dup (p.Ser1172fs) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 2, 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:
RCV003494431.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.3512dup (p.Ser1172fs)]

NM_000059.4(BRCA2):c.3512dup (p.Ser1172fs)

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.3512dup (p.Ser1172fs)
HGVS:
  • NC_000013.11:g.32337867dup
  • NG_012772.3:g.27388dup
  • NM_000059.4:c.3512dupMANE SELECT
  • NM_001406719.1:c.3512dup
  • NM_001406720.1:c.3512dup
  • NM_001406721.1:c.1909+4480dup
  • NM_001406722.1:c.425-6691dup
  • NP_000050.2:p.Ser1172Ilefs
  • NP_000050.3:p.Ser1172fs
  • NP_001393648.1:p.Ser1172fs
  • NP_001393649.1:p.Ser1172fs
  • LRG_293t1:c.3512dup
  • LRG_293:g.27388dup
  • LRG_293p1:p.Ser1172Ilefs
  • NC_000013.10:g.32912004dup
  • NM_000059.3:c.3512dup
  • NR_176251.1:n.3711dup
Protein change:
S1172fs
Molecular consequence:
  • NM_000059.4:c.3512dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406719.1:c.3512dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406720.1:c.3512dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406721.1:c.1909+4480dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406722.1:c.425-6691dup - intron variant - [Sequence Ontology: SO:0001627]
  • NR_176251.1:n.3711dup - 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
SCV004243607BRCAlab, Lund University
no assertion criteria provided
Pathogenic
(Mar 2, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From BRCAlab, Lund University, SCV004243607.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024