U.S. flag

An official website of the United States government

NM_177924.5(ASAH1):c.704G>A (p.Gly235Asp) AND Farber lipogranulomatosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 28, 2017
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:
RCV000367143.5

Allele description [Variation Report for NM_177924.5(ASAH1):c.704G>A (p.Gly235Asp)]

NM_177924.5(ASAH1):c.704G>A (p.Gly235Asp)

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.704G>A (p.Gly235Asp)
HGVS:
  • NC_000008.11:g.18061458C>T
  • NG_008985.2:g.28541G>A
  • NM_001127505.3:c.686G>A
  • NM_001363743.2:c.509G>A
  • NM_004315.6:c.752G>A
  • NM_177924.5:c.704G>AMANE SELECT
  • NP_001120977.1:p.Gly229Asp
  • NP_001350672.1:p.Gly170Asp
  • NP_004306.3:p.Gly251Asp
  • NP_808592.2:p.Gly235Asp
  • NC_000008.10:g.17918967C>T
  • NG_008985.1:g.28541G>A
  • NM_004315.4:c.752G>A
  • NM_177924.3:c.704G>A
Protein change:
G170D
Links:
dbSNP: rs886062781
NCBI 1000 Genomes Browser:
rs886062781
Molecular consequence:
  • NM_001127505.3:c.686G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363743.2:c.509G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004315.6:c.752G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_177924.5:c.704G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Farber lipogranulomatosis (FRBRL)
Synonyms:
Farber's disease; Farber disease; Ceramidase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009218; MedGen: C0268255; Orphanet: 333; OMIM: 228000

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
SCV000472714Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)		Uncertain significance
(Apr 28, 2017) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Farber disease in infancy resembling juvenile idiopathic arthritis: identification of two new mutations and a good early response to allogeneic haematopoietic stem cell transplantation.

Torcoletti M, Petaccia A, Pinto RM, Hladnik U, Locatelli F, Agostoni C, Corona F.

Rheumatology (Oxford). 2014 Aug;53(8):1533-4. doi: 10.1093/rheumatology/keu010. Epub 2014 Mar 10. No abstract available.

PubMed [citation]
PMID:
24614645

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000472714.3

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

Description

The ASAH1 c.704G>A (p.Gly235Asp) variant is a missense variant that has been reported in one case study in which it is found in a compound heterozygous state with a frameshift variant in an infant who was initially diagnosed with juvenile idiopathic arthritis (Torcoletti et al. 2014). Control data are unavailable for the p.Gly235Asp variant, and it is not found in the 1000 Genomes Project, the Exome Sequencing Project or the Exome Aggregation Consortium despite being located in a region of good sequencing coverage. The variant is thus considered to be rare. Functional studies in cultured skin fibroblasts from the compound heterozygous individual demonstrated that the ceramide content was markedly elevated compared to wildtype, which is consistent with Farber disease. The evidence for this variant is limited. The p.Gly235Asp variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for Farber lipogranulomatosis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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

Last Updated: Feb 4, 2024