NM_000543.5(SMPD1):c.581dup (p.Ala195fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 1, 2020
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:: RCV001310952.34

Allele description [Variation Report for NM_000543.5(SMPD1):c.581dup (p.Ala195fs)]

NM_000543.5(SMPD1):c.581dup (p.Ala195fs)

Gene:

SMPD1:sphingomyelin phosphodiesterase 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000543.5(SMPD1):c.581dup (p.Ala195fs)

HGVS:

NC_000011.10:g.6391646dup
NG_011780.1:g.6222dup
NM_000543.5:c.581dupMANE SELECT
NM_001007593.3:c.578dup
NM_001318087.2:c.581dup
NM_001318088.2:c.-381dup
NM_001365135.2:c.581dup
NP_000534.3:p.Ala195fs
NP_001007594.2:p.Ala194fs
NP_001305016.1:p.Ala195fs
NP_001352064.1:p.Ala195fs
NC_000011.9:g.6412870_6412871insC
NC_000011.9:g.6412876dup
NM_000543.4:c.581dupC
NM_000543.5:c.581dupCMANE SELECT
NR_027400.3:n.706dup

Protein change:

A194fs

Links:

dbSNP: rs748165078

Molecular consequence:

NM_001318088.2:c.-381dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000543.5:c.581dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001007593.3:c.578dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318087.2:c.581dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001365135.2:c.581dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027400.3:n.706dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

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
SCV001500950	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Oct 1, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001500950

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Oct 1, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001500950.35

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

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

Last Updated: Jun 20, 2026

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