NM_000751.3(CHRND):c.283T>C (p.Phe95Leu) AND Lethal multiple pterygium syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2008
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:: RCV000020037.28

Allele description [Variation Report for NM_000751.3(CHRND):c.283T>C (p.Phe95Leu)]

NM_000751.3(CHRND):c.283T>C (p.Phe95Leu)

Gene:

CHRND:cholinergic receptor nicotinic delta subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.1

Genomic location:

Preferred name:

NM_000751.3(CHRND):c.283T>C (p.Phe95Leu)

Other names:

F74L

HGVS:

NC_000002.12:g.232528301T>C
NG_008028.1:g.7090T>C
NM_000751.3:c.283T>CMANE SELECT
NM_001256657.2:c.238T>C
NM_001311195.2:c.12T>C
NM_001311196.2:c.12T>C
NP_000742.1:p.Phe95Leu
NP_001243586.1:p.Phe80Leu
NP_001298124.1:p.Asn4=
NP_001298125.1:p.Asn4=
NC_000002.11:g.233393011T>C
Q07001:p.Phe95Leu

Protein change:

F80L; PHE74LEU

Links:

UniProtKB: Q07001#VAR_043905; OMIM: 100720.0006; dbSNP: rs121909506

NCBI 1000 Genomes Browser:

rs121909506

Molecular consequence:

NM_000751.3:c.283T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001256657.2:c.238T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001311195.2:c.12T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001311196.2:c.12T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Lethal multiple pterygium syndrome (LMPS)
Identifiers:: MONDO: MONDO:0009668; MedGen: C1854678; Orphanet: 33108; OMIM: 253290

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000040335	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2008)	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

SCV000040335

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2008)

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

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K.

Am J Hum Genet. 2008 Feb;82(2):464-76. doi: 10.1016/j.ajhg.2007.11.006.

PubMed [citation]

PMID:: 18252226
PMCID:: PMC2427255

Details of each submission

From OMIM, SCV000040335.2

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

Description

Michalk et al. (2008) found that lethal multiple pterygium syndrome (253290) in multiple sibs in a German family was caused by compound heterozygosity for mutation in the CHRND gene: a T-to-C transition in exon 4 (283T-C), resulting in a phe74-to-leu substitution in the mature protein (F74L; F95L in the precursor), and a nonsense mutation The other allele carried a nonsense mutation (R443X; 100720.0007).

#	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: Apr 23, 2022

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