NM_058216.3(RAD51C):c.145+12T>G AND Breast-ovarian cancer, familial, susceptibility to, 3

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Apr 27, 2017
Review status:: criteria provided, conflicting classifications

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:: RCV000411797.10

Allele description [Variation Report for NM_058216.3(RAD51C):c.145+12T>G]

NM_058216.3(RAD51C):c.145+12T>G

Genes:

LOC130061310:ATAC-STARR-seq lymphoblastoid active region 12491 [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.145+12T>G

HGVS:

NC_000017.11:g.58692800T>G
NG_023199.1:g.5199T>G
NG_047169.1:g.4280A>C
NM_002876.4:c.145+12T>G
NM_058216.3:c.145+12T>GMANE SELECT
LRG_314t1:c.145+12T>G
LRG_314:g.5199T>G
NC_000017.10:g.56770161T>G
NM_002876.2:c.145+12T>G
NM_058216.1:c.145+12T>G
NM_058216.2:c.145+12T>G

Links:

dbSNP: rs377297129

NCBI 1000 Genomes Browser:

rs377297129

Molecular consequence:

NM_002876.4:c.145+12T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_058216.3:c.145+12T>G - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000490072	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely benign (Oct 25, 2016)	unknown	clinical testing	Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV001285751	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 27, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000490072

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Likely benign
(Oct 25, 2016)

unknown

clinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV001285751

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 27, 2017)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer.

Jønson L, Ahlborn LB, Steffensen AY, Djursby M, Ejlertsen B, Timshel S, Nielsen FC, Gerdes AM, Hansen TV.

Breast Cancer Res Treat. 2016 Jan;155(2):215-22. doi: 10.1007/s10549-015-3674-y. Epub 2016 Jan 6.

PubMed [citation]

PMID:: 26740214

Details of each submission

From Counsyl, SCV000490072.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Illumina Laboratory Services, Illumina, SCV001285751.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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