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NM_000543.5(SMPD1):c.107T>C (p.Val36Ala) AND Niemann-Pick disease, type B

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 1, 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:
RCV001533318.10

Allele description [Variation Report for NM_000543.5(SMPD1):c.107T>C (p.Val36Ala)]

NM_000543.5(SMPD1):c.107T>C (p.Val36Ala)

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.107T>C (p.Val36Ala)
HGVS:
  • NC_000011.10:g.6390705T>C
  • NG_011780.1:g.5281T>C
  • NM_000543.5:c.107T>CMANE SELECT
  • NM_001007593.3:c.107T>C
  • NM_001318087.2:c.107T>C
  • NM_001318088.2:c.-855T>C
  • NM_001365135.2:c.107T>C
  • NP_000534.3:p.Val36Ala
  • NP_000534.3:p.Val36Ala
  • NP_001007594.2:p.Val36Ala
  • NP_001305016.1:p.Val36Ala
  • NP_001352064.1:p.Val36Ala
  • NC_000011.9:g.6411935T>C
  • NM_000543.4:c.107T>C
  • NR_027400.3:n.232T>C
  • NR_134502.2:n.232T>C
Protein change:
V36A
Links:
dbSNP: rs1050228
NCBI 1000 Genomes Browser:
rs1050228
Molecular consequence:
  • NM_001318088.2:c.-855T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000543.5:c.107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001007593.3:c.107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318087.2:c.107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365135.2:c.107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027400.3:n.232T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134502.2:n.232T>C - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749170Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 1, 2021) 		germlineclinical testing

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

Help

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, SCV001749170.1

#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: Nov 3, 2024