NM_000557.5(GDF5):c.1424G>A (p.Ser475Asn) AND Multiple synostoses syndrome 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 20, 2014
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:: RCV000008896.2

Allele description [Variation Report for NM_000557.5(GDF5):c.1424G>A (p.Ser475Asn)]

NM_000557.5(GDF5):c.1424G>A (p.Ser475Asn)

Genes:

GDF5-AS1:GDF5 antisense RNA 1 [Gene - HGNC]
GDF5:growth differentiation factor 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.22

Genomic location:

Preferred name:

NM_000557.5(GDF5):c.1424G>A (p.Ser475Asn)

HGVS:

NC_000020.11:g.35433991C>T
NG_008076.3:g.25756G>A
NM_000557.5:c.1424G>AMANE SELECT
NM_001319138.2:c.1424G>A
NP_000548.2:p.Ser475Asn
NP_001306067.1:p.Ser475Asn
NC_000020.10:g.34021789C>T
NR_161326.1:n.275C>T

Protein change:

S475N; SER475ASN

Links:

OMIM: 601146.0013; dbSNP: rs121909347

NCBI 1000 Genomes Browser:

rs121909347

Molecular consequence:

NM_000557.5:c.1424G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001319138.2:c.1424G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_161326.1:n.275C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Multiple synostoses syndrome 2 (SYNS2)
Identifiers:: MONDO: MONDO:0012394; MedGen: C1832708; Orphanet: 3237; OMIM: 610017

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029106	OMIM	no assertion criteria provided	Pathogenic (Nov 20, 2014)	germline	literature only	Akarsu, A. N., Rezaie, T., Demirtas, M., Farhud, D. D., Sarfarazi, M. Multiple synostosis type 2 (SYNS2) maps to 20q11.2 and caused by a missense mutation in the growth/differentiation factor 5 (GDF5). (Abstract) Am. J. Hum. Genet. 65 (suppl.): A281-only, 1999.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029106

OMIM

no assertion criteria provided

Pathogenic
(Nov 20, 2014)

germline

literature only

Akarsu, A. N., Rezaie, T., Demirtas, M., Farhud, D. D., Sarfarazi, M. Multiple synostosis type 2 (SYNS2) maps to 20q11.2 and caused by a missense mutation in the growth/differentiation factor 5 (GDF5). (Abstract) Am. J. Hum. Genet. 65 (suppl.): A281-only, 1999.

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

Details of each submission

From OMIM, SCV000029106.2

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

Description

In a large Iranian family with tarsal-carpal coalition, humeroradial synostosis, brachydactyly, and proximal symphalangism inherited in an autosomal dominant pattern (SYNS2; 610017), Akarsu et al. (1999) found a heterozygous ser475-to-asn (S475N) mutation in GDF5 that segregated with the phenotype in 39 affected and 27 unaffected individuals. Ser475 lies in a highly conserved region of the protein.

#	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

ClinVar

Relating variation to medicine