NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile) AND not specified

Clinical significance:Benign (Last evaluated: May 13, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000405876.4

Allele description [Variation Report for NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile)]

NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile)

Gene:
SPTLC1:serine palmitoyltransferase long chain base subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.31
Genomic location:
Preferred name:
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile)
HGVS:
  • NC_000009.12:g.92032476C>T
  • NG_007950.1:g.87933G>A
  • NM_001281303.2:c.1379G>A
  • NM_001368272.1:c.1045G>A
  • NM_001368273.1:c.946G>A
  • NM_006415.4:c.1411G>AMANE SELECT
  • NP_001268232.1:p.Arg460His
  • NP_001355201.1:p.Val349Ile
  • NP_001355202.1:p.Val316Ile
  • NP_006406.1:p.Val471Ile
  • LRG_272t1:c.1411G>A
  • LRG_272:g.87933G>A
  • NC_000009.11:g.94794758C>T
  • NM_006415.2:c.1411G>A
  • NM_006415.3:c.1411G>A
Protein change:
R460H
Links:
dbSNP: rs141292904
NCBI 1000 Genomes Browser:
rs141292904
Molecular consequence:
  • NM_001281303.2:c.1379G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368272.1:c.1045G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368273.1:c.946G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006415.4:c.1411G>A - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000341037EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(May 13, 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, SCV000341037.4

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

Last Updated: Nov 27, 2021

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