NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Nov 13, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001575718.7

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]

Observations:

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001802767	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Nov 13, 2024)	germline	clinical testing	Citation Link,
SCV005413930	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 30, 2023)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 28681861, 29560417, 30065953, 32528171, 32573669, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001802767

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Nov 13, 2024)

germline

clinical testing

Citation Link,

SCV005413930

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 30, 2023)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, et al.

Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077.

PubMed [citation]

PMID:: 28681861
PMCID:: PMC5504296

Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome.

Alrohaif H, Töpf A, Evangelista T, Lek M, McArthur D, Lochmüller H.

Neurol Genet. 2018 Apr;4(2):e226. doi: 10.1212/NXG.0000000000000226. No abstract available.

PubMed [citation]

PMID:: 29560417
PMCID:: PMC5858950

See all PubMed Citations (6)

Details of each submission

From GeneDx, SCV001802767.4

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

Description

Published functional studies suggest residual protein activity is more similar to wild type activity than to null allele activity (PMID: 28681861); Considered a hypomorphic allele and associated with milder disease (PMID: 29560417, 28681861); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 7131178, 30065953, 29560417, 32573669, 32333597, 32528171, 28681861, 38790073)

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV005413930.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (6)

Description

PP1, PM2_moderate, PM3, PS3_supporting, PS4

#	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		1	not provided	not provided	not provided

Last Updated: Nov 30, 2024

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