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NM_013292.5(MYL11):c.487G>A (p.Gly163Ser) AND Arthrogryposis, distal, type 1C

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 30, 2020
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:
RCV001268956.1

Allele description [Variation Report for NM_013292.5(MYL11):c.487G>A (p.Gly163Ser)]

NM_013292.5(MYL11):c.487G>A (p.Gly163Ser)

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.487G>A (p.Gly163Ser)
HGVS:
  • NC_000016.10:g.30377877G>A
  • NG_050592.1:g.11944G>A
  • NG_050732.1:g.4566G>A
  • NG_056816.1:g.270G>A
  • NM_001324458.2:c.487G>A
  • NM_001324459.2:c.487G>A
  • NM_013292.5:c.487G>AMANE SELECT
  • NP_001311387.1:p.Gly163Ser
  • NP_001311388.1:p.Gly163Ser
  • NP_037424.2:p.Gly163Ser
  • NC_000016.9:g.30389198G>A
  • NM_013292.4:c.487G>A
Protein change:
G163S; GLY163SER
Links:
OMIM: 617378.0003; dbSNP: rs2049768364
NCBI 1000 Genomes Browser:
rs2049768364
Molecular consequence:
  • NM_001324458.2:c.487G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324459.2:c.487G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013292.5:c.487G>A - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001448213OMIM
no assertion criteria provided
Pathogenic
(Nov 30, 2020) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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, SCV001448213.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an Ashkenazi Jewish father and son (family G) with distal arthrogryposis (DA1C; 619110), Chong et al. (2020) identified heterozygosity for a c.487G-A transition (c.487G-A, NM_013292.4) in exon 7 of the MYLPF gene, resulting in a gly163-to-ser (G163S) substitution at a deeply conserved residue. Segregation analysis revealed that the mutation arose de novo in the father.

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

Last Updated: Oct 14, 2023