U.S. flag

An official website of the United States government

NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 28, 2019
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:
RCV000855489.3

Allele description [Variation Report for NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)]

NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)

Gene:
ASAH1:N-acylsphingosine amidohydrolase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p22
Genomic location:
Preferred name:
NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)
Other names:
p.Asp30Asn
HGVS:
  • NC_000008.11:g.18075578C>T
  • NG_008985.2:g.14421G>A
  • NM_001127505.3:c.136G>A
  • NM_001363743.2:c.-108G>A
  • NM_004315.6:c.136G>A
  • NM_177924.5:c.88G>AMANE SELECT
  • NP_001120977.1:p.Asp46Asn
  • NP_004306.3:p.Asp46Asn
  • NP_808592.2:p.Asp30Asn
  • NC_000008.10:g.17933087C>T
  • NC_000008.10:g.17933087C>T
  • NG_008985.1:g.14421G>A
  • NM_004315.4:c.136G>A
  • NM_177924.3:c.88G>A
Protein change:
D30N
Links:
dbSNP: rs200758704
NCBI 1000 Genomes Browser:
rs200758704
Molecular consequence:
  • NM_001363743.2:c.-108G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001127505.3:c.136G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004315.6:c.136G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_177924.5:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Fetal akinesia deformation sequence 1 (FADS1)
Synonyms:
Pena-Shokeir syndrome type I; Fetal akinesia sequence
Identifiers:
MONDO: MONDO:0100101; MedGen: C1276035; Orphanet: 994; OMIM: 208150; Human Phenotype Ontology: HP:0001989
Name:
Arthrogryposis multiplex congenita (AMC)
Synonyms:
Congenital multiple arthrogryposis; Fibrous ankylosis of multiple joints; Congenital arthromyodysplasia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015168; MeSH: D001176; MedGen: C5779613; Orphanet: 1037; OMIM: PS617468; Human Phenotype Ontology: HP:0002804

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
SCV000996619Cirak Lab, University Hospital Cologne
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 28, 2019) 		unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Germanunknownyes1not providednot providednot providednot providedresearch

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

The genomic and clinical landscape of fetal akinesia.

Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, et al.

Genet Med. 2020 Mar;22(3):511-523. doi: 10.1038/s41436-019-0680-1. Epub 2019 Nov 4. Erratum in: Genet Med. 2020 Aug;22(8):1426-1428. doi: 10.1038/s41436-020-0839-9..

PubMed [citation]
PMID:
31680123

Details of each submission

From Cirak Lab, University Hospital Cologne, SCV000996619.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1German1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 6, 2025