NM_058216.3(RAD51C):c.52_53del (p.Pro18fs) AND Fanconi anemia complementation group O

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 2, 2022
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:: RCV000809585.8

Allele description [Variation Report for NM_058216.3(RAD51C):c.52_53del (p.Pro18fs)]

NM_058216.3(RAD51C):c.52_53del (p.Pro18fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_058216.3(RAD51C):c.52_53del (p.Pro18fs)

HGVS:

NC_000017.11:g.58692695_58692696del
NG_023199.1:g.5094_5095del
NG_047169.1:g.4385_4386del
NM_002876.4:c.52_53del
NM_058216.3:c.52_53delMANE SELECT
NP_002867.1:p.Pro18fs
NP_478123.1:p.Pro18fs
LRG_314:g.5094_5095del
NC_000017.10:g.56770055_56770056del
NC_000017.10:g.56770056_56770057del
NM_058216.1:c.52_53delCC
NM_058216.2:c.52_53del
NM_058216.2:c.52_53delCC
NR_103872.2:n.94_95del

Protein change:

P18fs

Links:

dbSNP: rs1598448896

NCBI 1000 Genomes Browser:

rs1598448896

Molecular consequence:

NM_002876.4:c.52_53del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_058216.3:c.52_53del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_103872.2:n.94_95del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Fanconi anemia complementation group O
Identifiers:: MONDO: MONDO:0013248; MedGen: C3150653; Orphanet: 84; OMIM: 613390

Recent activity

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cohesin subunit SA-2 isoform b [Homo sapiens]
cohesin subunit SA-2 isoform b [Homo sapiens]
gi|31563531|ref|NP_006594.3|

Protein
30S ribosomal protein S6 [Pasteurella multocida subsp. multocida str. HB03]
30S ribosomal protein S6 [Pasteurella multocida subsp. multocida str. HB03]
gi|570283384|gnl|sklam|PMCN03_2143| E65572.1|

Protein
50S ribosomal protein L34 [Pasteurella multocida subsp. multocida str. HB03]
50S ribosomal protein L34 [Pasteurella multocida subsp. multocida str. HB03]
gi|570283403|gnl|sklam|PMCN03_2162| E65591.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000949742	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Mar 2, 2022)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 28975465, 20400964, 21990120, 24800917, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000949742

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Mar 2, 2022)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

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

Citations

PubMed

Expanding the spectrum of germline variants in cancer.

Siraj AK, Masoodi T, Bu R, Parvathareddy SK, Al-Badawi IA, Al-Sanea N, Ashari LH, Abduljabbar A, Alhomoud S, Al-Sobhi SS, Tulbah A, Ajarim D, Alzoman K, Aljuboury M, Yousef HB, Al-Dawish M, Al-Dayel F, Alkuraya FS, Al-Kuraya KS.

Hum Genet. 2017 Nov;136(11-12):1431-1444. doi: 10.1007/s00439-017-1845-0. Epub 2017 Oct 3.

PubMed [citation]

PMID:: 28975465

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.

Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, Niederacher D, Freund M, Lichtner P, Hartmann L, Schaal H, Ramser J, Honisch E, Kubisch C, Wichmann HE, Kast K, Deissler H, Engel C, Müller-Myhsok B, Neveling K, Kiechle M, Mathew CG, Schindler D, et al.

Nat Genet. 2010 May;42(5):410-4. doi: 10.1038/ng.569. Epub 2010 Apr 18.

PubMed [citation]

PMID:: 20400964

See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000949742.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 653763). This variant is also known as c.51_52del, p.F17fs. This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer (PMID: 28975465). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro18Alafs*18) in the RAD51C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917).

#	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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