NM_058216.3(RAD51C):c.3G>A (p.Met1Ile) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 11, 2019
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:: RCV000579223.4

Allele description [Variation Report for NM_058216.3(RAD51C):c.3G>A (p.Met1Ile)]

NM_058216.3(RAD51C):c.3G>A (p.Met1Ile)

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.3G>A (p.Met1Ile)

HGVS:

NC_000017.11:g.58692646G>A
NG_023199.1:g.5045G>A
NG_047169.1:g.4434C>T
NM_002876.4:c.3G>A
NM_058216.3:c.3G>AMANE SELECT
NP_002867.1:p.Met1Ile
NP_478123.1:p.Met1Ile
LRG_314t1:c.3G>A
LRG_314:g.5045G>A
NC_000017.10:g.56770007G>A
NM_058216.1:c.3G>A
NM_058216.2:c.3G>A
NR_103872.2:n.45G>A
NR_103873.1:n.74G>A

Protein change:

M1I

Links:

dbSNP: rs769053886

NCBI 1000 Genomes Browser:

rs769053886

Molecular consequence:

NM_002876.4:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_058216.3:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_002876.4:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_058216.3:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_103872.2:n.45G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_103873.1:n.74G>A - 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
SCV000680878	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Oct 11, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000680878

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Oct 11, 2019)

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

Details of each submission

From GeneDx, SCV000680878.5

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

Description

Initiation codon variant in a gene for which a downstreamin-frame ATG could serve as an alternate initiator codon (French 2003); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Observed in individuals with breast cancer (Cybulski 2019); This variant is associated with the following publications: (PMID: 12966089, 31173646)

#	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: Oct 26, 2024

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