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NM_001127198.5(TMC6):c.1811+1G>A AND Epidermodysplasia verruciformis, susceptibility to, 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 13, 2018
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:
RCV000703978.1

Allele description

NM_001127198.5(TMC6):c.1811+1G>A

Gene:
TMC6:transmembrane channel like 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_001127198.5(TMC6):c.1811+1G>A
HGVS:
  • NC_000017.11:g.78119296C>T
  • NG_007879.1:g.18112G>A
  • NM_001127198.5:c.1811+1G>AMANE SELECT
  • NM_001321185.1:c.1811+1G>A
  • NM_001374593.1:c.1631+1G>A
  • NM_001374594.1:c.1631+1G>A
  • NM_001374596.1:c.1811+1G>A
  • NM_001375353.1:c.1811+1G>A
  • NM_001375354.1:c.1811+1G>A
  • NM_007267.7:c.1811+1G>A
  • LRG_118:g.18112G>A
  • NC_000017.10:g.76115377C>T
Links:
dbSNP: rs1567989416
NCBI 1000 Genomes Browser:
rs1567989416
Molecular consequence:
  • NM_001127198.5:c.1811+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001321185.1:c.1811+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374593.1:c.1631+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374594.1:c.1631+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374596.1:c.1811+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001375353.1:c.1811+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001375354.1:c.1811+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007267.7:c.1811+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Epidermodysplasia verruciformis, susceptibility to, 1
Identifiers:
MONDO: MONDO:0100045; MedGen: C4722564; Orphanet: 302; OMIM: 226400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000832910Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely pathogenic
(Mar 13, 2018) 		germlineclinical testing

PubMed (3)
[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

Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis.

Tate G, Suzuki T, Kishimoto K, Mitsuya T.

J Hum Genet. 2004;49(4):223-225. doi: 10.1007/s10038-004-0135-6. Epub 2004 Mar 23.

PubMed [citation]
PMID:
15042430

Novel homozygous frameshift mutation of EVER1 gene in an epidermodysplasia verruciformis patient.

Gober MD, Rady PL, He Q, Tucker SB, Tyring SK, Gaspari AA.

J Invest Dermatol. 2007 Apr;127(4):817-20. Epub 2006 Nov 30.

PubMed [citation]
PMID:
17139267
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000832910.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change affects a donor splice site in intron 14 of the TMC6 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TMC6-related disease. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TMC6 are known to be pathogenic (PMID: 15042430, 17139267). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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

Last Updated: Nov 13, 2022