U.S. flag

An official website of the United States government

NM_003995.4(NPR2):c.493del (p.Arg165fs) AND Acromesomelic dysplasia 1, Maroteaux type

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 26, 2023
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:
RCV003232887.1

Allele description [Variation Report for NM_003995.4(NPR2):c.493del (p.Arg165fs)]

NM_003995.4(NPR2):c.493del (p.Arg165fs)

Gene:
NPR2:natriuretic peptide receptor 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_003995.4(NPR2):c.493del (p.Arg165fs)
HGVS:
  • NC_000009.12:g.35792901del
  • NG_009249.1:g.5493del
  • NM_001378923.1:c.493del
  • NM_003995.4:c.493delMANE SELECT
  • NP_001365852.1:p.Arg165fs
  • NP_003986.2:p.Arg165fs
  • NC_000009.11:g.35792898del
  • NM_003995.4:c.493delCMANE SELECT
Protein change:
R165fs
Molecular consequence:
  • NM_001378923.1:c.493del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003995.4:c.493del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003929422Institute of Human Genetics, Cologne University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Apr 26, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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 Institute of Human Genetics, Cologne University, SCV003929422.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023