NM_005055.5(RAPSN):c.566C>T (p.Ala189Val) AND Fetal akinesia deformation sequence 2

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:: RCV000008525.4

Allele description [Variation Report for NM_005055.5(RAPSN):c.566C>T (p.Ala189Val)]

NM_005055.5(RAPSN):c.566C>T (p.Ala189Val)

Gene:

RAPSN:receptor associated protein of the synapse [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

Preferred name:

NM_005055.5(RAPSN):c.566C>T (p.Ala189Val)

HGVS:

NC_000011.10:g.47442780G>A
NG_008312.1:g.11399C>T
NM_005055.5:c.566C>TMANE SELECT
NM_032645.5:c.566C>T
NP_005046.2:p.Ala189Val
NP_116034.2:p.Ala189Val
NC_000011.9:g.47464332G>A
Q13702:p.Ala189Val

Protein change:

A189V; ALA189VAL

Links:

UniProtKB: Q13702#VAR_043902; OMIM: 601592.0014; dbSNP: rs121909257

NCBI 1000 Genomes Browser:

rs121909257

Molecular consequence:

NM_005055.5:c.566C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_032645.5:c.566C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Fetal akinesia deformation sequence 2
Identifiers:: MONDO: MONDO:0100102; MedGen: C4760576; OMIM: 618388

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028733	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

SCV000028733

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, SCV000028733.4

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

Description

For discussion of the ala189-to-val (A189V) mutation in the RAPSN gene that was found in compound heterozygous state in patients with fetal akinesia sequence (FADS2; 618388) by Michalk et al. (2008), see 601592.0013.

#	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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