NM_002299.4(LCT):c.*10A>C AND Lactose intolerance

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000309257.5

Allele description [Variation Report for NM_002299.4(LCT):c.*10A>C]

NM_002299.4(LCT):c.*10A>C

Gene:
LCT:lactase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q21.3
Genomic location:
Preferred name:
NM_002299.4(LCT):c.*10A>C
HGVS:
  • NC_000002.12:g.135788314T>G
  • NG_008104.2:g.71856A>C
  • NM_002299.4:c.*10A>CMANE SELECT
  • LRG_338t1:c.*10A>C
  • LRG_338:g.71856A>C
  • NC_000002.11:g.136545884T>G
  • NM_002299.2:c.*10A>C
Links:
dbSNP: rs200994158
NCBI 1000 Genomes Browser:
rs200994158
Molecular consequence:
  • NM_002299.4:c.*10A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000416440Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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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, SCV000416440.2

#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: Dec 24, 2023