NM_003995.4(NPR2):c.343T>G (p.Trp115Gly) AND Acromesomelic dysplasia 1, Maroteaux type

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2004
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:: RCV000019363.26

Allele description

NM_003995.4(NPR2):c.343T>G (p.Trp115Gly)

Gene:

NPR2:natriuretic peptide receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

Preferred name:

NM_003995.4(NPR2):c.343T>G (p.Trp115Gly)

HGVS:

NC_000009.12:g.35792751T>G
NG_009249.1:g.5343T>G
NM_001378923.1:c.343T>G
NM_003995.4:c.343T>GMANE SELECT
NP_001365852.1:p.Trp115Gly
NP_003986.2:p.Trp115Gly
NC_000009.11:g.35792748T>G
P20594:p.Trp115Gly

Protein change:

W115G; TRP115GLY

Links:

UniProtKB: P20594#VAR_022584; OMIM: 108961.0002; dbSNP: rs28931582

NCBI 1000 Genomes Browser:

rs28931582

Molecular consequence:

NM_001378923.1:c.343T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003995.4:c.343T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Acromesomelic dysplasia 1, Maroteaux type
Synonyms:: Acromesomelic dwarfism Maroteux type; ST. HELENA DYSPLASIA; Acromesomelic dysplasia, Maroteaux type; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011275; MedGen: C1864356; Orphanet: 40; OMIM: 602875

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039653	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 2004)	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

SCV000039653

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 2004)

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 the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

Bartels CF, Bükülmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih LY, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, Lees M, Kirk J, Mortier GR, Leroy J, Zabel B, Kim CA, Crow Y, et al.

Am J Hum Genet. 2004 Jul;75(1):27-34. Epub 2004 May 14.

PubMed [citation]

PMID:: 15146390
PMCID:: PMC1182004

Details of each submission

From OMIM, SCV000039653.3

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

Description

In a consanguineous Turkish family with acromesomelic dysplasia, type Maroteaux (602875), Bartels et al. (2004) found a homozygous 343T-G transversion in the NPR2 cDNA, causing a trp115-to-gly amino acid substitution (W115G), as the basis of the disorder.

#	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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