NM_000059.3(BRCA2):c.3554_3563delCAGTTGAAAT (p.Thr1185Ilefs) AND not specified

Clinical significance:Likely pathogenic (Last evaluated: Jul 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000239304.1

Allele description

NM_000059.3(BRCA2):c.3554_3563delCAGTTGAAAT (p.Thr1185Ilefs)

Gene:
BRCA2:BRCA2, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.3554_3563delCAGTTGAAAT (p.Thr1185Ilefs)
HGVS:
  • NC_000013.11:g.32337909_32337918delCAGTTGAAAT
  • NG_012772.3:g.27430_27439delCAGTTGAAAT
  • NM_000059.3:c.3554_3563delCAGTTGAAAT
  • NP_000050.2:p.Thr1185Ilefs
  • LRG_293t1:c.3554_3563delCAGTTGAAAT
  • LRG_293:g.27430_27439delCAGTTGAAAT
  • LRG_293p1:p.Thr1185Ilefs
  • NC_000013.10:g.32912046_32912055delCAGTTGAAAT
  • NM_000059.3:c.3554_3563del10
Links:
dbSNP: rs397507675
NCBI 1000 Genomes Browser:
rs397507675
Molecular consequence:
  • NM_000059.3:c.3554_3563delCAGTTGAAAT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000296820GeneKor MSAcriteria provided, single submitter
Likely pathogenic
(Jul 1, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 GeneKor MSA, SCV000296820.1

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

Last Updated: Jul 31, 2016