NM_002461.3(MVD):c.746T>C (p.Phe249Ser) AND MVD-related disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 23, 2024
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV004757180.1

Allele description [Variation Report for NM_002461.3(MVD):c.746T>C (p.Phe249Ser)]

NM_002461.3(MVD):c.746T>C (p.Phe249Ser)

Gene:

MVD:mevalonate diphosphate decarboxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.2

Genomic location:

Preferred name:

NM_002461.3(MVD):c.746T>C (p.Phe249Ser)

HGVS:

NC_000016.10:g.88655350A>G
NG_007291.1:g.700T>C
NG_052674.1:g.12804T>C
NM_002461.2:c.746T>C
NM_002461.3:c.746T>CMANE SELECT
NP_002452.1:p.Phe249Ser
LRG_52:g.700T>C
NC_000016.9:g.88721758A>G
NM_002461.1:c.746T>C
P53602:p.Phe249Ser

Protein change:

F249S; PHE249SER

Links:

UniProtKB: P53602#VAR_075058; OMIM: 603236.0001; dbSNP: rs761991070

NCBI 1000 Genomes Browser:

rs761991070

Molecular consequence:

NM_002461.3:c.746T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: MVD-related disorder
Synonyms:: MVD-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005349543	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely pathogenic (Aug 23, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005349543

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely pathogenic
(Aug 23, 2024)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005349543.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The MVD c.746T>C variant is predicted to result in the amino acid substitution p.Phe249Ser. This variant has been reported in multiple individuals with porokeratosis (Shi et al. 2020. PubMed ID: 33168400; Shiiya et al. 2021. PubMed ID: 33481264; Wang et al. 2024. PubMed ID: 38283795). Moreover, this variant has been observed to co-segregate with disease in a large family with porokeratosis (Zhang et al. 2015. PubMed ID: 26202976). This variant is reported in 0.069% of alleles in individuals of East Asian descent in gnomAD. This variant is interpreted as likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 30, 2024

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