NM_058216.3(RAD51C):c.86C>T (p.Ser29Phe) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Dec 9, 2022
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:: RCV000586089.2

Allele description [Variation Report for NM_058216.3(RAD51C):c.86C>T (p.Ser29Phe)]

NM_058216.3(RAD51C):c.86C>T (p.Ser29Phe)

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.86C>T (p.Ser29Phe)

HGVS:

NC_000017.11:g.58692729C>T
NG_023199.1:g.5128C>T
NG_047169.1:g.4351G>A
NM_002876.4:c.86C>T
NM_058216.3:c.86C>TMANE SELECT
NP_002867.1:p.Ser29Phe
NP_478123.1:p.Ser29Phe
LRG_314t1:c.86C>T
LRG_314:g.5128C>T
NC_000017.10:g.56770090C>T
NM_058216.1:c.86C>T
NM_058216.2:c.86C>T
NR_103872.2:n.128C>T

Protein change:

S29F

Links:

dbSNP: rs876659683

NCBI 1000 Genomes Browser:

rs876659683

Molecular consequence:

NM_002876.4:c.86C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_058216.3:c.86C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_103872.2:n.128C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000699828	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Sep 6, 2016)	germline	clinical testing	LabCorp Variant Classification Summary - May 2015.docx, Citation Link,
SCV003931126	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 9, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000699828

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Sep 6, 2016)

germline

clinical testing

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV003931126

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 9, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699828.1

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

Description

Variant summary: The RAD51C c.86C>T (p.Ser29Phe) variant involves the alteration of a non-conserved nucleotide. Ser29 is not conserved across species and is not located in a known functional domain; additionally, 2/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). However, the variant has not been evaluated for functional impact by in vivo/vitro studies. This variant was absent in 121294 control chromosomes and has not, to our knowledge, been reported in affected individuals via publications. One clinical diagnostic laboratory classified this variant as uncertain significance. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

#	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 GeneDx, SCV003931126.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Aug 11, 2024

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