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

Clinical significance:Benign/Likely benign (Last evaluated: Mar 26, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000756719.6

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]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000516667GeneDxcriteria provided, single submitter
Likely benign
(Mar 26, 2020)
germlineclinical testing

Citation Link,

SCV000884609ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Benign
(Jun 14, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000516667.4

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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000884609.1

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

Last Updated: Nov 27, 2021

Support Center