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NM_032193.4(RNASEH2C):c.495A>G (p.Ter165Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 29, 2020
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:
RCV001174719.1

Allele description [Variation Report for NM_032193.4(RNASEH2C):c.495A>G (p.Ter165Trp)]

NM_032193.4(RNASEH2C):c.495A>G (p.Ter165Trp)

Gene:
RNASEH2C:ribonuclease H2 subunit C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_032193.4(RNASEH2C):c.495A>G (p.Ter165Trp)
Other names:
*165W
HGVS:
  • NC_000011.10:g.65719783T>C
  • NG_008976.2:g.6156A>G
  • NG_033057.1:g.12782T>C
  • NM_032193.4:c.495A>GMANE SELECT
  • NP_115569.2:p.Ter165Trp
  • LRG_280t1:c.495A>G
  • LRG_280:g.6156A>G
  • NC_000011.9:g.65487254T>C
  • NM_032193.3:c.495A>G
Links:
dbSNP: rs749473518
NCBI 1000 Genomes Browser:
rs749473518
Molecular consequence:
  • NM_032193.4:c.495A>G - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001337994Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jan 29, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001337994.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: RNASEH2C c.495A>G (p.X165Trp) changes the termination codon and is predicted to lead to an extended protein with 135 amino acids added to the normal C-terminus. The variant allele was found at a frequency of 1.4e-05 in 143290 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.495A>G in individuals affected with Aicardi Goutieres syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Apr 23, 2022