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NM_058216.3(RAD51C):c.146-15T>C AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 9, 2018
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:
RCV000663171.1

Allele description [Variation Report for NM_058216.3(RAD51C):c.146-15T>C]

NM_058216.3(RAD51C):c.146-15T>C

Gene:
RAD51C:RAD51 paralog C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_058216.3(RAD51C):c.146-15T>C
HGVS:
  • NC_000017.11:g.58694916T>C
  • NG_023199.1:g.7315T>C
  • NG_047169.1:g.2164A>G
  • NM_002876.4:c.146-15T>C
  • NM_058216.3:c.146-15T>CMANE SELECT
  • LRG_314t1:c.146-15T>C
  • LRG_314:g.7315T>C
  • NC_000017.10:g.56772277T>C
  • NM_058216.1:c.146-15T>C
Links:
dbSNP: rs1036386535
NCBI 1000 Genomes Browser:
rs1036386535
Molecular consequence:
  • NM_002876.4:c.146-15T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_058216.3:c.146-15T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 3
Synonyms:
RAD51C-Related Breast/Ovarian Cancer; Breast-ovarian cancer, familial 3
Identifiers:
MONDO: MONDO:0013253; MedGen: C3150659; Orphanet: 145; OMIM: 613399
Name:
Fanconi anemia complementation group O
Identifiers:
MONDO: MONDO:0013248; MedGen: C3150653; Orphanet: 84; OMIM: 613390

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000786332Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))
Likely benign
(Apr 9, 2018)
unknownclinical testing

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000786332.2

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

Last Updated: Apr 23, 2022