NM_177924.5(ASAH1):c.358G>C (p.Ala120Pro) AND Farber lipogranulomatosis

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 4, 2021
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001728067.1

Allele description [Variation Report for NM_177924.5(ASAH1):c.358G>C (p.Ala120Pro)]

NM_177924.5(ASAH1):c.358G>C (p.Ala120Pro)

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.358G>C (p.Ala120Pro)

HGVS:

NC_000008.11:g.18067244C>G
NG_008985.2:g.22755G>C
NM_001127505.3:c.340G>C
NM_001363743.2:c.163G>C
NM_004315.6:c.406G>C
NM_177924.5:c.358G>CMANE SELECT
NP_001120977.1:p.Ala114Pro
NP_001350672.1:p.Ala55Pro
NP_004306.3:p.Ala136Pro
NP_808592.2:p.Ala120Pro
NC_000008.10:g.17924753C>G
NM_177924.3:c.358G>C

Protein change:

A114P; ALA120PRO

Links:

OMIM: 613468.0015; dbSNP: rs2117047219

NCBI 1000 Genomes Browser:

rs2117047219

Molecular consequence:

NM_001127505.3:c.340G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001363743.2:c.163G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004315.6:c.406G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_177924.5:c.358G>C - 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
SCV001976496	OMIM	no assertion criteria provided	Pathogenic (Oct 4, 2021)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001976496

OMIM

no assertion criteria provided

Pathogenic
(Oct 4, 2021)

germline

literature only

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

Help

Summary from all submissions

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

Citations

PubMed

Farber disease in a patient from China.

Bao X, Ma M, Zhang Z, Xu Y, Qiu Z.

Am J Med Genet A. 2020 Sep;182(9):2184-2186. doi: 10.1002/ajmg.a.61752. Epub 2020 Jul 24.

PubMed [citation]

PMID:: 32706452

Details of each submission

From OMIM, SCV001976496.1

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

Description

For discussion of the c.358G-C transversion (c.358G-C, NM_177924.3) in the ASAH1 gene, resulting in an ala120-to-pro (A120P) substitution, that was identified in compound heterozygous state in a patient with Farber lipogranulomatosis (FRBRL; 228000) by Bao et al. (2020), see 613468.0014.

#	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

Last Updated: Apr 7, 2025

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