NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) AND not specified

Clinical significance:Benign (Last evaluated: Dec 16, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000592219.1

Allele description [Variation Report for NM_000543.5(SMPD1):c.901G>A (p.Val301Ile)]

NM_000543.5(SMPD1):c.901G>A (p.Val301Ile)

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.901G>A (p.Val301Ile)
HGVS:
  • NC_000011.10:g.6391966G>A
  • NG_011780.1:g.6542G>A
  • NM_000543.4(SMPD1):c.901G>A
  • NM_000543.5:c.901G>AMANE SELECT
  • NM_001007593.3:c.898G>A
  • NM_001318087.2:c.901G>A
  • NM_001318088.2:c.-61G>A
  • NM_001365135.2:c.901G>A
  • NP_000534.3:p.Val301Ile
  • NP_001007594.2:p.Val300Ile
  • NP_001305016.1:p.Val301Ile
  • NP_001352064.1:p.Val301Ile
  • NC_000011.9:g.6413196G>A
  • NM_000543.4(SMPD1):c.901G>A
  • NM_000543.4:c.901G>A
  • NR_027400.3:n.1026G>A
  • p.Val301Ile
Protein change:
V300I
Links:
dbSNP: rs2723669
NCBI 1000 Genomes Browser:
rs2723669
Molecular consequence:
  • NM_001318088.2:c.-61G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000543.5:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001007593.3:c.898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318087.2:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365135.2:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027400.3:n.1026G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000704670EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Dec 16, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000704670.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 14, 2021

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