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NM_003995.4(NPR2):c.1887+2T>A AND Acromesomelic dysplasia 1, Maroteaux type

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 3, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001263189.1

Allele description [Variation Report for NM_003995.4(NPR2):c.1887+2T>A]

NM_003995.4(NPR2):c.1887+2T>A

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.1887+2T>A
HGVS:
  • NC_000009.12:g.35802805T>A
  • NG_009249.1:g.15397T>A
  • NM_001378923.1:c.1896+2T>A
  • NM_003995.4:c.1887+2T>AMANE SELECT
  • NC_000009.11:g.35802802T>A
Links:
dbSNP: rs1828226013
NCBI 1000 Genomes Browser:
rs1828226013
Molecular consequence:
  • NM_001378923.1:c.1896+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_003995.4:c.1887+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Acromesomelic dysplasia 1, Maroteaux type (AMD1)
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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001245523Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 3, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Turkishgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine, SCV001245523.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Turkish1not providednot providedclinical testingnot provided

Description

Molecular analysis of the NPR2 gene revealed a homozygous splice site mutation c.1887+2T>A in intron 12 in a patient presented with short stature and disproportionate limb shortening. Clinical and radiographic findings of the patient were compatible with Acromesomelic dysplasia, Maroteaux type. Also, this variant has been reported among the loss-of-function mutations in NPR2 related to Acromesomelic dysplasia, Maroteaux type (Bartels et al., 2004). The identified mutation has not been reported in ExAC and gnomAD databases. This variant was classified as pathogenic based on ACMG variant classification guidelines and predicted to be disease causing by in silico analysis such as MutationTaster.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 5, 2023