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NM_003995.4(NPR2):c.1249C>G (p.Gln417Glu) AND Short stature with nonspecific skeletal abnormalities

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 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:
RCV000190432.5

Allele description [Variation Report for NM_003995.4(NPR2):c.1249C>G (p.Gln417Glu)]

NM_003995.4(NPR2):c.1249C>G (p.Gln417Glu)

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.1249C>G (p.Gln417Glu)
HGVS:
  • NC_000009.12:g.35800739C>G
  • NG_009249.1:g.13331C>G
  • NM_001378923.1:c.1249C>G
  • NM_003995.4:c.1249C>GMANE SELECT
  • NP_001365852.1:p.Gln417Glu
  • NP_003986.2:p.Gln417Glu
  • NC_000009.11:g.35800736C>G
  • P20594:p.Gln417Glu
Protein change:
Q417E; GLN417GLU
Links:
UniProtKB: P20594#VAR_074682; OMIM: 108961.0013; dbSNP: rs796065356
NCBI 1000 Genomes Browser:
rs796065356
Molecular consequence:
  • NM_001378923.1:c.1249C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003995.4:c.1249C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Short stature with nonspecific skeletal abnormalities (SNSK1)
Synonyms:
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 1
Identifiers:
MONDO: MONDO:0014551; MedGen: C4225399; OMIM: 616255

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000244272OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 2014) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.

Amano N, Mukai T, Ito Y, Narumi S, Tanaka T, Yokoya S, Ogata T, Hasegawa T.

J Clin Endocrinol Metab. 2014 Apr;99(4):E713-8. doi: 10.1210/jc.2013-3525. Epub 2014 Jan 28.

PubMed [citation]
PMID:
24471569

Details of each submission

From OMIM, SCV000244272.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

By direct sequencing of the NPR2 gene in 101 unrelated Japanese patients with short stature (SNSK1; 616255), Amano et al. (2014) identified a heterozygous c.1249C-G transversion, resulting in a gln417-to-glu (Q417E) substitution in 1 proband (adult height -2.6 SD) and her mother (adult height -2.5 SD). The mutation was not found in 2 sibs of the proband, but her father's DNA was not tested. The mutation was not present in the dbSNP or the 1000 Genomes Project databases or in 100 Japanese control individuals. Coexpression of the mutant and wildtype led to a significant loss in the CNP-dependent cGMP response compared with that of the empty vector and wildtype, indicating a dominant-negative effect.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024