NM_000543.5(SMPD1):c.1296_1297del (p.His432fs) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 30, 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:: RCV001281419.1

Allele description [Variation Report for NM_000543.5(SMPD1):c.1296_1297del (p.His432fs)]

NM_000543.5(SMPD1):c.1296_1297del (p.His432fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000543.5(SMPD1):c.1296_1297del (p.His432fs)

HGVS:

NC_000011.10:g.6393649_6393650del
NG_011780.1:g.8225_8226del
NG_029615.1:g.30765_30766del
NM_000543.5:c.1296_1297delMANE SELECT
NM_001007593.3:c.1293_1294del
NM_001318087.2:c.1296_1297del
NM_001318088.2:c.375_376del
NM_001365135.2:c.1164_1165del
NP_000534.3:p.His432fs
NP_001007594.2:p.His431fs
NP_001305016.1:p.His432fs
NP_001305017.1:p.His125fs
NP_001352064.1:p.His388fs
NC_000011.9:g.6414879_6414880del
NM_000543.4:c.1296_1297delCT
NR_027400.3:n.1249_1250del
NR_134502.2:n.768_769del

Protein change:

H125fs

Links:

dbSNP: rs1848042860

NCBI 1000 Genomes Browser:

rs1848042860

Molecular consequence:

NM_000543.5:c.1296_1297del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001007593.3:c.1293_1294del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318087.2:c.1296_1297del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318088.2:c.375_376del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001365135.2:c.1164_1165del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027400.3:n.1249_1250del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_134502.2:n.768_769del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Niemann-Pick disease, type B
Identifiers:: MONDO: MONDO:0011871; MedGen: C0268243; Orphanet: 77293; OMIM: 607616

Name:: Niemann-Pick disease, type A
Synonyms:: SPHINGOMYELIN LIPIDOSIS; SPHINGOMYELINASE DEFICIENCY
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
SCV001468724	Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 30, 2020)	inherited	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

SCV001468724

Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 30, 2020)

inherited

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	inherited	yes	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 Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital, SCV001468724.1

#	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	inherited	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 29, 2023

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