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NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn) AND not provided

Germline classification:
Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:
Dec 27, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000983934.7

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]
Observations:
1

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001131984Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Dec 27, 2023)
germlineclinical testing

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

SCV004224139Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Feb 10, 2023)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.

Robak LA, Jansen IE, van Rooij J, Uitterlinden AG, Kraaij R, Jankovic J; International Parkinson’s Disease Genomics Consortium (IPDGC), Heutink P, Shulman JM.

Brain. 2017 Dec 1;140(12):3191-3203. doi: 10.1093/brain/awx285.

PubMed [citation]
PMID:
29140481
PMCID:
PMC5841393
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001131984.3

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV004224139.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

BP4

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

Last Updated: Jan 19, 2025