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NM_003995.4(NPR2):c.2944G>A (p.Asp982Asn) AND Acromesomelic dysplasia 1, Maroteaux type

Clinical significance:Pathogenic (Last evaluated: Sep 16, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000416371.3

Allele description [Variation Report for NM_003995.4(NPR2):c.2944G>A (p.Asp982Asn)]

NM_003995.4(NPR2):c.2944G>A (p.Asp982Asn)

Genes:
NPR2:natriuretic peptide receptor 2 [Gene - OMIM - HGNC]
SPAG8:sperm associated antigen 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_003995.4(NPR2):c.2944G>A (p.Asp982Asn)
HGVS:
  • NC_000009.12:g.35808811G>A
  • NG_009249.1:g.21403G>A
  • NG_047141.1:g.8462C>T
  • NM_001366760.2:c.1201-505C>T
  • NM_001378923.1:c.2953G>A
  • NM_003995.4:c.2944G>AMANE SELECT
  • NM_172312.2:c.1373-505C>T
  • NP_001365852.1:p.Asp985Asn
  • NP_003986.2:p.Asp982Asn
  • NP_003986.2:p.Asp982Asn
  • NC_000009.11:g.35808808G>A
  • NM_003995.3:c.2944G>A
Protein change:
D982N
Links:
dbSNP: rs1057519336
NCBI 1000 Genomes Browser:
rs1057519336
Molecular consequence:
  • NM_001366760.2:c.1201-505C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_172312.2:c.1373-505C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378923.1:c.2953G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003995.4:c.2944G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000494075Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciencescriteria provided, single submitter
Pathogenic
(Sep 16, 2016)
inheritedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot provided1yesclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, SCV000494075.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyes1not providedassert pathogenicity1not providednot providednot provided

Last Updated: Sep 24, 2022

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