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NM_006785.4(MALT1):c.266G>T (p.Ser89Ile)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Oct 10, 2013)
Last evaluated:
Jul 1, 2013
Accession:
VCV000066089.1
Variation ID:
66089
Description:
single nucleotide variant
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NM_006785.4(MALT1):c.266G>T (p.Ser89Ile)

Allele ID
76991
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q21.32
Genomic location
18: 58681226 (GRCh38) GRCh38 UCSC
18: 56348458 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.58681226G>T
NC_000018.9:g.56348458G>T
LRG_1221t1:c.266G>T LRG_1221p1:p.Ser89Ile
... more HGVS
Protein change
S89I
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
UniProtKB: Q9UDY8#VAR_070857
OMIM: 604860.0001
dbSNP: rs398123058
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jul 1, 2013 RCV000056326.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MALT1 - - GRCh38
GRCh37
28 89

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 01, 2013)
no assertion criteria provided
Method: literature only
IMMUNODEFICIENCY 12
Allele origin: germline
OMIM
Accession: SCV000087495.4
Submitted: (Oct 10, 2013)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. Jabara HH The Journal of allergy and clinical immunology 2013 PMID: 23727036

Record last updated Jun 17, 2019