NM_058216.3(RAD51C):c.313_314insA (p.Ser105fs) AND Breast-ovarian cancer, familial, susceptibility to, 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 2, 2024
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:: RCV004033176.1

Allele description [Variation Report for NM_058216.3(RAD51C):c.313_314insA (p.Ser105fs)]

NM_058216.3(RAD51C):c.313_314insA (p.Ser105fs)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_058216.3(RAD51C):c.313_314insA (p.Ser105fs)

HGVS:

NC_000017.11:g.58695098_58695099insA
NG_023199.1:g.7497_7498insA
NG_047169.1:g.1981_1982insT
NM_002876.4:c.313_314insA
NM_058216.3:c.313_314insAMANE SELECT
NP_002867.1:p.Ser105fs
NP_478123.1:p.Ser105fs
LRG_314:g.7497_7498insA
NC_000017.10:g.56772459_56772460insA
NM_058216.2:c.313_314insA
NR_103872.2:n.355_356insA
NR_103873.1:n.281_282insA

Protein change:

S105fs

Links:

dbSNP: rs2047953067

NCBI 1000 Genomes Browser:

rs2047953067

Molecular consequence:

NM_002876.4:c.313_314insA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_058216.3:c.313_314insA - frameshift variant - [Sequence Ontology: SO:0001589]
NR_103872.2:n.355_356insA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_103873.1:n.281_282insA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004933783	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Jan 2, 2024)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004933783

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(Jan 2, 2024)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004933783.1

#	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 pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

#	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

Last Updated: Feb 25, 2025

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