NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser) AND Congenital lactase deficiency

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000049801.1

Allele description [Variation Report for NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser)]

NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser)

Gene:

LCT:lactase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q21.3

Genomic location:

Preferred name:

NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser)

HGVS:

NC_000002.12:g.135807214C>T
NG_008104.2:g.52956G>A
NM_002299.4:c.4087G>AMANE SELECT
NP_002290.2:p.Gly1363Ser
LRG_338t1:c.4087G>A
LRG_338:g.52956G>A
NC_000002.11:g.136564784C>T
NM_002299.2:c.4087G>A
P09848:p.Gly1363Ser

Protein change:

G1363S

Links:

UniProtKB: P09848#VAR_026708; dbSNP: rs386833833

NCBI 1000 Genomes Browser:

rs386833833

Molecular consequence:

NM_002299.4:c.4087G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000082210	Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	no assertion criteria provided	probable-pathogenic	not provided	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000082210

Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

no assertion criteria provided

probable-pathogenic

not provided

PubMed (1)
[See all records that cite this PMID]

Description

FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference: SCV000082210

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.

Kuokkanen M, Kokkonen J, Enattah NS, Ylisaukko-Oja T, Komu H, Varilo T, Peltonen L, Savilahti E, Jarvela I.

Am J Hum Genet. 2006 Feb;78(2):339-44. Epub 2005 Dec 15.

PubMed [citation]

PMID:: 16400612
PMCID:: PMC1380240

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000082210.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

Description

Converted during submission to Likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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