NM_000543.5(SMPD1):c.1341-1G>T AND Niemann-Pick disease, type A

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 14, 2016
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:: RCV000410844.1

Allele description

NM_000543.5(SMPD1):c.1341-1G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000543.5(SMPD1):c.1341-1G>T

HGVS:

NC_000011.10:g.6393895G>T
NG_011780.1:g.8471G>T
NG_029615.1:g.30520C>A
NM_000543.4(SMPD1):c.1341-1G>T
NM_000543.5:c.1341-1G>TMANE SELECT
NM_001007593.3:c.1338-1G>T
NM_001318087.2:c.1341-1G>T
NM_001318088.2:c.420-1G>T
NM_001365135.2:c.1209-1G>T
NC_000011.9:g.6415125G>T
NM_000543.4(SMPD1):c.1341-1G>T
NM_000543.4:c.1341-1G>T

Links:

dbSNP: rs1057516854

NCBI 1000 Genomes Browser:

rs1057516854

Molecular consequence:

NM_000543.5:c.1341-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001007593.3:c.1338-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001318087.2:c.1341-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001318088.2:c.420-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001365135.2:c.1209-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Niemann-Pick disease, type A
Synonyms:: SPHINGOMYELIN LIPIDOSIS; SPHINGOMYELINASE DEFICIENCY; ACID SPHINGOMYELINASE DEFICIENCY, NEUROVISCERAL TYPE; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009756; MedGen: C0268242; Orphanet: 77292; OMIM: 257200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000487307	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Nov 14, 2016)	unknown	clinical testing	mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000487307

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Nov 14, 2016)

unknown

clinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000487307.1

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

Last Updated: Jul 17, 2022

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