NM_002299.4(LCT):c.5568T>C (p.Ala1856=) AND Congenital lactase deficiency

Clinical significance: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:
RCV000280698.2

Allele description [Variation Report for NM_002299.4(LCT):c.5568T>C (p.Ala1856=)]

NM_002299.4(LCT):c.5568T>C (p.Ala1856=)

Gene:
LCT:lactase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q21.3
Genomic location:
Preferred name:
NM_002299.4(LCT):c.5568T>C (p.Ala1856=)
HGVS:
  • NC_000002.12:g.135788540A>G
  • NG_008104.2:g.71630T>C
  • NM_002299.4:c.5568T>CMANE SELECT
  • NP_002290.2:p.Ala1856=
  • LRG_338t1:c.5568T>C
  • LRG_338:g.71630T>C
  • NC_000002.11:g.136546110A>G
  • NM_002299.2:c.5568T>C
Links:
dbSNP: rs2278544
NCBI 1000 Genomes Browser:
rs2278544
Molecular consequence:
  • NM_002299.4:c.5568T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Congenital lactase deficiency
Synonyms:
ALACTASIA, CONGENITAL; DISACCHARIDE INTOLERANCE II
Identifiers:
MONDO: MONDO:0009115; MedGen: C0268179; OMIM: 223000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000416448Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
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, SCV000416448.2

#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: Oct 2, 2021

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