NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile) AND Neuropathy, hereditary sensory and autonomic, type 1A

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001249810.2

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)

Name:
Neuropathy, hereditary sensory and autonomic, type 1A (HSAN1A)
Synonyms:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN IA; HSN IA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008086; MedGen: C5235211; OMIM: 162400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000481048Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000481048.2

#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

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