NM_000059.4(BRCA2):c.67+62T>G AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Oct 25, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000503004.6

Allele description [Variation Report for NM_000059.4(BRCA2):c.67+62T>G]

NM_000059.4(BRCA2):c.67+62T>G

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.67+62T>G
Other names:
IVS2+62T/G; IVS2+62T>G
HGVS:
  • NC_000013.11:g.32316589T>G
  • NG_012772.3:g.6110T>G
  • NG_017006.1:g.366A>C
  • NG_017006.2:g.3775A>C
  • NM_000059.4:c.67+62T>GMANE SELECT
  • LRG_293t1:c.67+62T>G
  • LRG_293:g.6110T>G
  • NC_000013.10:g.32890726T>G
  • NM_000059.3:c.67+62T>G
  • U43746.1:n.295+62T>G
Links:
Breast Cancer Information Core (BIC) (BRCA2): 295+62&base_change=T to G; dbSNP: rs11571574
NCBI 1000 Genomes Browser:
rs11571574
Molecular consequence:
  • NM_000059.4:c.67+62T>G - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000591656Department of Pathology and Laboratory Medicine,Sinai Health System - Canadian Open Genetics Repository (COGR)criteria provided, single submitter
Likely benign
(Oct 25, 2017)
germlineclinical testing

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

SCV000602748ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Benign
(May 1, 2017)
germlineclinical testing

Citation Link,

SCV001905733Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

SCV001930453Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
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 Pathology and Laboratory Medicine,Sinai Health System - Canadian Open Genetics Repository (COGR), SCV000591656.2

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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000602748.1

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

From Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute - VKGL Data-share Consensus, SCV001905733.1

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001930453.1

#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: Nov 27, 2021

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