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NM_000543.5(SMPD1):c.1297T>C (p.Cys433Arg) AND Niemann-Pick disease, type A

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001004366.1

Allele description [Variation Report for NM_000543.5(SMPD1):c.1297T>C (p.Cys433Arg)]

NM_000543.5(SMPD1):c.1297T>C (p.Cys433Arg)

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.1297T>C (p.Cys433Arg)
HGVS:
  • NC_000011.10:g.6393650T>C
  • NG_011780.1:g.8226T>C
  • NG_029615.1:g.30765A>G
  • NM_000543.5:c.1297T>CMANE SELECT
  • NM_001007593.3:c.1294T>C
  • NM_001318087.2:c.1297T>C
  • NM_001318088.2:c.376T>C
  • NM_001365135.2:c.1165T>C
  • NP_000534.3:p.Cys433Arg
  • NP_001007594.2:p.Cys432Arg
  • NP_001305016.1:p.Cys433Arg
  • NP_001305017.1:p.Cys126Arg
  • NP_001352064.1:p.Cys389Arg
  • NC_000011.9:g.6414880T>C
  • NR_027400.3:n.1250T>C
  • NR_134502.2:n.769T>C
Protein change:
C126R
Links:
dbSNP: rs779528546
NCBI 1000 Genomes Browser:
rs779528546
Molecular consequence:
  • NM_000543.5:c.1297T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001007593.3:c.1294T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318087.2:c.1297T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318088.2:c.376T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365135.2:c.1165T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027400.3:n.1250T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134502.2:n.769T>C - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001163306Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Baylor Genetics, SCV001163306.1

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

Last Updated: Sep 29, 2024