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NM_002299.4(LCT):c.1692_1696del (p.Val565fs)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: May 19, 2013)
Accession:
VCV000056387.1
Variation ID:
56387
Description:
5bp deletion
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NM_002299.4(LCT):c.1692_1696del (p.Val565fs)

Allele ID
71026
Variant type
Deletion
Variant length
5 bp
Cytogenetic location
2q21.3
Genomic location
2: 135817352-135817356 (GRCh38) GRCh38 UCSC
2: 136574922-136574926 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_338:g.42814_42818del
LRG_338t1:c.1692_1696del
NC_000002.11:g.136574924_136574928del
... more HGVS
Protein change
V565fs
Other names
-
Canonical SPDI
NC_000002.12:135817351:CCACTCC:CC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA144312
dbSNP: rs386833832
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided - RCV000049800.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LCT - - GRCh38
GRCh37
184 199

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
probable-pathogenic
(-)
no assertion criteria provided
Method: not provided
Congenital lactase deficiency
Allele origin: not provided
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
Accession: SCV000082209.1
Submitted: (May 19, 2013)
Comment:
FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference
Evidence details
Comment:
Converted during submission to Likely pathogenic.

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD). Torniainen S BMC gastroenterology 2009 PMID: 19161632

Text-mined citations for rs386833832...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021