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NM_000543.5(SMPD1):c.152A>T (p.Asp51Val) AND Niemann-Pick disease, type B

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 22, 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:
RCV001579138.2

Allele description [Variation Report for NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)]

NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)

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.152A>T (p.Asp51Val)
HGVS:
  • NC_000011.10:g.6390750A>T
  • NG_011780.1:g.5326A>T
  • NM_000543.5:c.152A>TMANE SELECT
  • NM_001007593.3:c.152A>T
  • NM_001318087.2:c.152A>T
  • NM_001318088.2:c.-810A>T
  • NM_001365135.2:c.152A>T
  • NP_000534.3:p.Asp51Val
  • NP_001007594.2:p.Asp51Val
  • NP_001305016.1:p.Asp51Val
  • NP_001352064.1:p.Asp51Val
  • NC_000011.9:g.6411980A>T
  • NM_000543.4:c.152A>T
  • NR_027400.3:n.277A>T
  • NR_134502.2:n.277A>T
Protein change:
D51V
Links:
dbSNP: rs748589919
NCBI 1000 Genomes Browser:
rs748589919
Molecular consequence:
  • NM_001318088.2:c.-810A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000543.5:c.152A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001007593.3:c.152A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318087.2:c.152A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365135.2:c.152A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027400.3:n.277A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134502.2:n.277A>T - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001806556Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jul 22, 2021)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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 Genome-Nilou Lab, SCV001806556.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024