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NM_000059.4(BRCA2):c.3814del (p.Met1272fs) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 22, 2024
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:
RCV004595717.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.3814del (p.Met1272fs)]

NM_000059.4(BRCA2):c.3814del (p.Met1272fs)

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.3814del (p.Met1272fs)
HGVS:
  • NC_000013.11:g.32338169del
  • NG_012772.3:g.27690del
  • NM_000059.4:c.3814delMANE SELECT
  • NM_001406719.1:c.3814del
  • NM_001406720.1:c.3814del
  • NM_001406721.1:c.1909+4782del
  • NM_001406722.1:c.425-6389del
  • NP_000050.2:p.Met1272Cysfs
  • NP_000050.3:p.Met1272fs
  • NP_001393648.1:p.Met1272fs
  • NP_001393649.1:p.Met1272fs
  • LRG_293t1:c.3814del
  • LRG_293:g.27690del
  • LRG_293p1:p.Met1272Cysfs
  • NC_000013.10:g.32912306del
  • NM_000059.3:c.3814delA
  • NR_176251.1:n.4013del
Protein change:
M1272fs
Molecular consequence:
  • NM_000059.4:c.3814del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406719.1:c.3814del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406720.1:c.3814del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406721.1:c.1909+4782del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406722.1:c.425-6389del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_176251.1:n.4013del - 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
SCV005088187Department of Human Genetics, Hannover Medical School
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 22, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Department of Human Genetics, Hannover Medical School, SCV005088187.1

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

Last Updated: Sep 1, 2024