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NM_058216.3(RAD51C):c.-19G>T AND Fanconi anemia complementation group O

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 22, 2021
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:
RCV001860097.6

Allele description [Variation Report for NM_058216.3(RAD51C):c.-19G>T]

NM_058216.3(RAD51C):c.-19G>T

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.-19G>T
HGVS:
  • NC_000017.11:g.58692625G>T
  • NG_023199.1:g.5024G>T
  • NG_047169.1:g.4455C>A
  • NM_002876.4:c.-19G>T
  • NM_058216.3:c.-19G>TMANE SELECT
  • LRG_314t1:c.-19G>T
  • LRG_314:g.5024G>T
  • NC_000017.10:g.56769986G>T
  • NM_058216.1:c.-19G>T
  • NM_058216.2:c.-19G>T
  • NR_103872.2:n.24G>T
  • NR_103873.1:n.53G>T
Links:
dbSNP: rs375889604
NCBI 1000 Genomes Browser:
rs375889604
Molecular consequence:
  • NM_002876.4:c.-19G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_058216.3:c.-19G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_103872.2:n.24G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_103873.1:n.53G>T - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002165721Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jan 22, 2021) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.

Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S.

J Clin Oncol. 2017 Apr 1;35(10):1086-1095. doi: 10.1200/JCO.2016.71.0012. Epub 2017 Jan 30.

PubMed [citation]
PMID:
28135145
PMCID:
PMC5455355

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002165721.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with colorectal cancer (PMID: 28135145). ClinVar contains an entry for this variant (Variation ID: 492355). This variant is present in population databases (rs375889604, ExAC 0.002%). This variant occurs in a non-coding region of the RAD51C gene. It does not change the encoded amino acid sequence of the RAD51C protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024