NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) AND MYMK-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 18, 2023
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:: RCV003424047.6

Allele description [Variation Report for NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)]

NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)

Gene:

MYMK:myomaker, myoblast fusion factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.2

Genomic location:

Preferred name:

NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)

HGVS:

NC_000009.12:g.133519002G>T
NM_001080483.3:c.271C>AMANE SELECT
NP_001073952.1:p.Pro91Thr
NC_000009.11:g.136384124G>T
NM_001080483.2:c.271C>A
p.Pro91Thr

Protein change:

P91T; PRO91THR

Links:

OMIM: 615345.0001; dbSNP: rs137868995

NCBI 1000 Genomes Browser:

rs137868995

Molecular consequence:

NM_001080483.3:c.271C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004117201	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Dec 18, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004117201

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Dec 18, 2023)

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, SCV004117201.3

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

Description

The MYMK c.271C>A variant is predicted to result in the amino acid substitution p.Pro91Thr. This variant has been reported in the compound heterozygous state in multiple individuals with Carey-Fineman-Ziter syndrome (Figure S1, Di Gioia et al. 2017. PubMed ID: 28681861; Alrohaif et al. 2018. PubMed ID: 29560417; Hedberg-Oldfors et al. 2018. PubMed ID: 30065953). This variant is reported in 0.22% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as 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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