NM_177924.5(ASAH1):c.387_388del (p.Glu129fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 21, 2021
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:: RCV002007402.4

Allele description [Variation Report for NM_177924.5(ASAH1):c.387_388del (p.Glu129fs)]

NM_177924.5(ASAH1):c.387_388del (p.Glu129fs)

Gene:

ASAH1:N-acylsphingosine amidohydrolase 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

8p22

Genomic location:

Preferred name:

NM_177924.5(ASAH1):c.387_388del (p.Glu129fs)

HGVS:

NC_000008.11:g.18064526TC[2]
NG_008985.2:g.25468GA[2]
NM_001127505.3:c.369_370del
NM_001363743.2:c.192_193del
NM_004315.6:c.435_436del
NM_177924.5:c.387_388delMANE SELECT
NP_001120977.1:p.Glu123fs
NP_001350672.1:p.Glu64fs
NP_004306.3:p.Glu145fs
NP_808592.2:p.Glu129fs
NC_000008.10:g.17922035TC[2]
NC_000008.10:g.17922035_17922036del

Protein change:

E123fs

Links:

dbSNP: rs2117037641

NCBI 1000 Genomes Browser:

rs2117037641

Molecular consequence:

NM_001127505.3:c.369_370del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001363743.2:c.192_193del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004315.6:c.435_436del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_177924.5:c.387_388del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002230791	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 21, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24164096, 24355074, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002230791

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 21, 2021)

germline

clinical testing

PubMed (3)
[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	clinical testing

Citations

PubMed

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.

Dyment DA, Sell E, Vanstone MR, Smith AC, Garandeau D, Garcia V, Carpentier S, Le Trionnaire E, Sabourdy F, Beaulieu CL, Schwartzentruber JA, McMillan HJ; FORGE Canada Consortium., Majewski J, Bulman DE, Levade T, Boycott KM.

Clin Genet. 2014 Dec;86(6):558-63. doi: 10.1111/cge.12307. Epub 2013 Nov 21.

PubMed [citation]

PMID:: 24164096

Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation.

Bashyam MD, Chaudhary AK, Kiran M, Reddy V, Nagarajaram HA, Dalal A, Bashyam L, Suri D, Gupta A, Gupta N, Kabra M, Puri RD, RamaDevi R, Kapoor S, Danda S.

Clin Genet. 2014 Dec;86(6):530-8. doi: 10.1111/cge.12316. Epub 2013 Dec 20.

PubMed [citation]

PMID:: 24355074

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002230791.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Glu129Aspfs*9) in the ASAH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ASAH1 are known to be pathogenic (PMID: 24164096, 24355074). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ASAH1-related conditions. This variant is not present in population databases (gnomAD no frequency).

#	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: Sep 29, 2024

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