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NM_145068.4(TRPV3):c.1810+1G>A AND Isolated focal non-epidermolytic palmoplantar keratoderma

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV000391064.5

Allele description [Variation Report for NM_145068.4(TRPV3):c.1810+1G>A]

NM_145068.4(TRPV3):c.1810+1G>A

Gene:
TRPV3:transient receptor potential cation channel subfamily V member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_145068.4(TRPV3):c.1810+1G>A
HGVS:
  • NC_000017.11:g.3520972C>T
  • NG_032144.2:g.42024G>A
  • NM_001258205.2:c.1810+1G>A
  • NM_145068.4:c.1810+1G>AMANE SELECT
  • NC_000017.10:g.3424266C>T
  • NM_145068.3:c.1810+1G>A
Links:
dbSNP: rs773523427
NCBI 1000 Genomes Browser:
rs773523427
Molecular consequence:
  • NM_001258205.2:c.1810+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_145068.4:c.1810+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Isolated focal non-epidermolytic palmoplantar keratoderma
Synonyms:
Palmoplantar keratoderma, nonepidermolytic, focal 2
Identifiers:
MONDO: MONDO:0014622; MedGen: C4225339; Orphanet: 448264; OMIM: 616400

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000402115Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)		Uncertain significance
(Apr 27, 2017) 		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 Illumina Laboratory Services, Illumina, SCV000402115.3

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

Description

The TRPV3 c.1810+1G>A variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. The variant is reported at a frequency of 0.00009 in the Latino population of the Exome Aggregation Consortium. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of splice donor variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for palmoplantar keratoderma, mutilating, with periorificial keratotic plaques. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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

Last Updated: Jun 10, 2023