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NM_024334.3(TMEM43):c.64C>T (p.Gln22Ter) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 20, 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:
RCV001174705.1

Allele description [Variation Report for NM_024334.3(TMEM43):c.64C>T (p.Gln22Ter)]

NM_024334.3(TMEM43):c.64C>T (p.Gln22Ter)

Gene:
TMEM43:transmembrane protein 43 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_024334.3(TMEM43):c.64C>T (p.Gln22Ter)
HGVS:
  • NC_000003.12:g.14129463C>T
  • NG_008975.1:g.9524C>T
  • NM_024334.3:c.64C>TMANE SELECT
  • NP_077310.1:p.Gln22Ter
  • LRG_435t1:c.64C>T
  • LRG_435:g.9524C>T
  • NC_000003.11:g.14170963C>T
  • NM_024334.2:c.64C>T
Protein change:
Q22*
Links:
dbSNP: rs1695063853
NCBI 1000 Genomes Browser:
rs1695063853
Molecular consequence:
  • NM_024334.3:c.64C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001337967Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jan 20, 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, SCV001337967.1

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

Description

Variant summary: TMEM43 c.64C>T (p.Gln22X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay. The variant was absent in 251412 control chromosomes. To our knowledge, no occurrence of c.64C>T in individuals affected with Arrhythmia 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. Truncating mutations in this gene have not been reported as pathogenic by our lab or ClinVar. Based on the evidence outlined above, the variant was classified as a VUS.

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

Last Updated: Nov 5, 2022