NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys) AND Farber lipogranulomatosis

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Apr 16, 2018
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:: RCV000000113.4

Allele description [Variation Report for NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys)]

NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys)

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.107A>G (p.Tyr36Cys)

Other names:

NM_001127505.1:c.155A>G; NM_001127505.2:c.155A>G(p.Tyr52Cys); NM_004315.4:c.155A>G; NM_004315.5:c.155A>G(p.Tyr52Cys); NM_177924.4:c.107A>G(p.Tyr36Cys)

HGVS:

NC_000008.11:g.18075559T>C
NG_008985.2:g.14440A>G
NM_001127505.3:c.155A>G
NM_001363743.2:c.-89A>G
NM_004315.6:c.155A>G
NM_177924.5:c.107A>GMANE SELECT
NP_001120977.1:p.Tyr52Cys
NP_004306.3:p.Tyr52Cys
NP_808592.2:p.Tyr36Cys
NC_000008.10:g.17933068T>C
NG_008985.1:g.14440A>G
NM_177924.3:c.107A>G

Protein change:

Y36C; TYR36CYS

Links:

OMIM: 613468.0003; dbSNP: rs137853595

NCBI 1000 Genomes Browser:

rs137853595

Molecular consequence:

NM_001363743.2:c.-89A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001127505.3:c.155A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004315.6:c.155A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_177924.5:c.107A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000020256	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2001)	germline	literature only	PubMed (1) [See all records that cite this PMID] Souillet, G., Guibaud, P., Fensom, A. H., Maire, I., Zabot, M. T. Outcome of displacement bone marrow transplantation in Farber's disease: a report of a case. In: Hobbs, J. R. (ed.) Correction of Certain Genetic Diseases by Transplantation. London: COGENT 137-141, 1989.,
SCV000787438	SIB Swiss Institute of Bioinformatics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 16, 2018)	germline	curation	PubMed (2) [See all records that cite these PMIDs] 11241842, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000020256

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2001)

germline

literature only

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

Souillet, G., Guibaud, P., Fensom, A. H., Maire, I., Zabot, M. T. Outcome of displacement bone marrow transplantation in Farber's disease: a report of a case. In: Hobbs, J. R. (ed.) Correction of Certain Genetic Diseases by Transplantation. London: COGENT 137-141, 1989.,

SCV000787438

SIB Swiss Institute of Bioinformatics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 16, 2018)

germline

curation

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Molecular analysis of acid ceramidase deficiency in patients with Farber disease.

Bär J, Linke T, Ferlinz K, Neumann U, Schuchman EH, Sandhoff K.

Hum Mutat. 2001 Mar;17(3):199-209.

PubMed [citation]

PMID:: 11241842

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 OMIM, SCV000020256.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a male offspring of consanguineous Tunisian parents with the severe (classic) subtype of Farber lipogranulomatosis (FRBRL; 228000) (Souillet et al., 1989), Bar et al. (2001) found a tyr36-to-cys (Y36C) mutation of the ASAH1 gene due to a 107A-G transition. The amino acid substitution was located in the alpha subunit.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From SIB Swiss Institute of Bioinformatics, SCV000787438.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

Description

This variant is interpreted as a Likely Pathogenic, for Farber lipogranulomatosis, Autosomal Recessive inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PS3 => Well-established functional studies show a deleterious effect (PMID:11241842).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 28, 2025

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