NM_002299.4(LCT):c.1396G>T (p.Gly466Trp) AND Lactose intolerance

Clinical significance:Uncertain significance (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:
RCV000316915.3

Allele description [Variation Report for NM_002299.4(LCT):c.1396G>T (p.Gly466Trp)]

NM_002299.4(LCT):c.1396G>T (p.Gly466Trp)

Gene:
LCT:lactase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q21.3
Genomic location:
Preferred name:
NM_002299.4(LCT):c.1396G>T (p.Gly466Trp)
HGVS:
  • NC_000002.12:g.135817652C>A
  • NG_008104.2:g.42518G>T
  • NM_002299.4:c.1396G>TMANE SELECT
  • NP_002290.2:p.Gly466Trp
  • LRG_338t1:c.1396G>T
  • LRG_338:g.42518G>T
  • NC_000002.11:g.136575222C>A
  • NM_002299.2:c.1396G>T
Protein change:
G466W
Links:
dbSNP: rs377102890
NCBI 1000 Genomes Browser:
rs377102890
Molecular consequence:
  • NM_002299.4:c.1396G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lactose intolerance
Identifiers:
MONDO: MONDO:0100345; MedGen: C0022951; Human Phenotype Ontology: HP:0004789

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000416526Illumina Laboratory Services,Illuminacriteria provided, single submitter
Uncertain significance
(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 Laboratory Services,Illumina, SCV000416526.2

#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: Jan 8, 2022

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