NM_058216.3(RAD51C):c.34C>T (p.Arg12Trp) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: May 23, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000574346.10

Allele description [Variation Report for NM_058216.3(RAD51C):c.34C>T (p.Arg12Trp)]

NM_058216.3(RAD51C):c.34C>T (p.Arg12Trp)

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.34C>T (p.Arg12Trp)

HGVS:

NC_000017.11:g.58692677C>T
NG_023199.1:g.5076C>T
NG_047169.1:g.4403G>A
NM_002876.4:c.34C>T
NM_058216.3:c.34C>TMANE SELECT
NP_002867.1:p.Arg12Trp
NP_478123.1:p.Arg12Trp
LRG_314t1:c.34C>T
LRG_314:g.5076C>T
NC_000017.10:g.56770038C>T
NM_058216.1:c.34C>T
NM_058216.2:c.34C>T
NR_103872.2:n.76C>T
NR_103873.1:n.105C>T

Protein change:

R12W

Links:

dbSNP: rs28910276

NCBI 1000 Genomes Browser:

rs28910276

Molecular consequence:

NM_002876.4:c.34C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_058216.3:c.34C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_103872.2:n.76C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_103873.1:n.105C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000671901	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 23, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21537932, 24631219 Citation Link,
SCV000686345	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 24, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002531810	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Uncertain significance (Feb 7, 2022)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000671901

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 23, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000686345

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 24, 2019)

germline

clinical testing

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

SCV002531810

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Uncertain significance
(Feb 7, 2022)

germline

curation

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, curation

Citations

PubMed

A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families.

Romero A, Pérez-Segura P, Tosar A, García-Saenz JA, Díaz-Rubio E, Caldés T, de la Hoya M.

Breast Cancer Res Treat. 2011 Oct;129(3):939-46. doi: 10.1007/s10549-011-1543-x. Epub 2011 May 3.

PubMed [citation]

PMID:: 21537932

Rad51C: a novel suppressor gene modulates the risk of head and neck cancer.

Gresner P, Gromadzinska J, Twardowska E, Rydzynski K, Wasowicz W.

Mutat Res. 2014 Apr;762:47-54. doi: 10.1016/j.mrfmmm.2014.02.007. Epub 2014 Mar 12.

PubMed [citation]

PMID:: 24631219

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000671901.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The p.R12W variant (also known as c.34C>T), located in coding exon 1 of the RAD51C gene, results from a C to T substitution at nucleotide position 34. The arginine at codon 12 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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

From Color Diagnostics, LLC DBA Color Health, SCV000686345.3

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

#	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

From Sema4, Sema4, SCV002531810.1

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

#	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: Sep 29, 2024

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