NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs) AND Niemann-Pick disease, type A

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 25, 2024
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:: RCV001004572.2

Allele description [Variation Report for NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs)]

NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs)

Gene:

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

Variant type:

Indel

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs)

HGVS:

NC_000011.10:g.6390705_6390714delinsCGC
NG_011780.1:g.5281_5290delinsCGC
NM_000543.5:c.107_116delinsCGCMANE SELECT
NM_001007593.3:c.107_116delinsCGC
NM_001318087.2:c.107_116delinsCGC
NM_001318088.2:c.-855_-846delinsCGC
NM_001365135.2:c.107_116delinsCGC
NP_000534.3:p.Val36fs
NP_001007594.2:p.Val36fs
NP_001305016.1:p.Val36fs
NP_001352064.1:p.Val36fs
NC_000011.9:g.6411935_6411944delinsCGC
NM_000543.4:c.107_116delinsCGC
NR_027400.3:n.232_241delinsCGC
NR_134502.2:n.232_241delinsCGC

Protein change:

V36fs

Links:

dbSNP: rs1590735307

NCBI 1000 Genomes Browser:

rs1590735307

Molecular consequence:

NM_001318088.2:c.-855_-846delinsCGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000543.5:c.107_116delinsCGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001007593.3:c.107_116delinsCGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318087.2:c.107_116delinsCGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001365135.2:c.107_116delinsCGC - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027400.3:n.232_241delinsCGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_134502.2:n.232_241delinsCGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Niemann-Pick disease, type A
Synonyms:: SPHINGOMYELIN LIPIDOSIS; SPHINGOMYELINASE DEFICIENCY
Identifiers:: MONDO: MONDO:0009756; MedGen: C0268242; Orphanet: 77292; OMIM: 257200

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001163656	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 25, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001163656

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 25, 2024)

unknown

clinical testing

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Baylor Genetics, SCV001163656.2

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

#	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: Oct 13, 2024

ClinVar

Relating variation to medicine