NM_013292.5(MYL11):c.469T>C (p.Cys157Arg) AND Arthrogryposis, distal, type 1C

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 13, 2022
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:: RCV002221613.1

Allele description [Variation Report for NM_013292.5(MYL11):c.469T>C (p.Cys157Arg)]

NM_013292.5(MYL11):c.469T>C (p.Cys157Arg)

Genes:

LOC112441444:Sharpr-MPRA regulatory region 9884 [Gene]
MYL11:myosin light chain 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

Preferred name:

NM_013292.5(MYL11):c.469T>C (p.Cys157Arg)

Other names:

MYLPF, CYS157ARG (rs748809300)

HGVS:

NC_000016.10:g.30377859T>C
NG_050592.1:g.11926T>C
NG_050732.1:g.4548T>C
NG_056816.1:g.252T>C
NM_001324458.2:c.469T>C
NM_001324459.2:c.469T>C
NM_013292.5:c.469T>CMANE SELECT
NP_001311387.1:p.Cys157Arg
NP_001311388.1:p.Cys157Arg
NP_037424.2:p.Cys157Arg
NC_000016.9:g.30389180T>C
NM_013292.4:c.469T>C

Protein change:

C157R; CYS157ARG

Links:

OMIM: 617378.0002; dbSNP: rs748809300

NCBI 1000 Genomes Browser:

rs748809300

Molecular consequence:

NM_001324458.2:c.469T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001324459.2:c.469T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_013292.5:c.469T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Arthrogryposis, distal, type 1C
Identifiers:: MONDO: MONDO:0030847; MedGen: C5436834; OMIM: 619110

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002499437	OMIM	no assertion criteria provided	Pathogenic (Apr 13, 2022)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002499437

OMIM

no assertion criteria provided

Pathogenic
(Apr 13, 2022)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.

Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, Nayak SS, Shukla A, Dieterich K, et al.

Am J Hum Genet. 2020 Aug 6;107(2):293-310. doi: 10.1016/j.ajhg.2020.06.014. Epub 2020 Jul 23.

PubMed [citation]

PMID:: 32707087
PMCID:: PMC7413889

Details of each submission

From OMIM, SCV002499437.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 3 unrelated patients from consanguineous Pakistani families (C, D, and E) with distal arthrogryposis (DA1C; 619110), Chong et al. (2020) identified homozygosity for a c.469T-C transition (c.469T-C, NM_013292.4) in exon 7 of the MYLPF gene, resulting in a cys157-to-arg (C157R) substitution at a conserved residue. The C157R variant was found to be exceedingly rare in the 1000 Genomes Project, UK10K, and gnomAD databases; the maximum frequency in any superpopulation in gnomAD was 0.00009 in the Finnish, with no homozygotes reported. The authors noted that this variant might represent a founder mutation, but original exome sequence data from these patients was unavailable for haplotype analysis.

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

Last Updated: Oct 14, 2023

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