NM_058216.3(RAD51C):c.404+6_404+10del AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 5, 2015
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:: RCV000480429.1

Allele description [Variation Report for NM_058216.3(RAD51C):c.404+6_404+10del]

NM_058216.3(RAD51C):c.404+6_404+10del

Gene:

RAD51C:RAD51 paralog C [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_058216.3(RAD51C):c.404+6_404+10del

HGVS:

NC_000017.11:g.58695195_58695199del
NG_023199.1:g.7594_7598del
NG_047169.1:g.1885_1889del
NM_002876.4:c.*2_*6del
NM_058216.3:c.404+6_404+10delMANE SELECT
NP_002867.1:p.Ter136=
LRG_314t1:c.404+6_404+10del
LRG_314:g.7594_7598del
NC_000017.10:g.56772552_56772556del
NC_000017.10:g.56772556_56772560del
NM_058216.1:c.404+6_404+10delATAAA
NM_058216.2:c.404+6_404+10delATAAA
NR_103873.1:n.378_382del

Links:

dbSNP: rs757693213

NCBI 1000 Genomes Browser:

rs757693213

Molecular consequence:

NM_002876.4:c.*2_*6del - no sequence alteration - [Sequence Ontology: SO:0002073]
NR_103873.1:n.378_382del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_058216.3:c.404+6_404+10del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000568161	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (Nov 5, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000568161

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely benign
(Nov 5, 2015)

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, SCV000568161.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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: Sep 29, 2024

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