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NM_000243.2(MEFV):c.1432C>T (p.His478Tyr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Oct 22, 2019)
Last evaluated:
May 28, 2019
Accession:
VCV000002557.2
Variation ID:
2557
Description:
single nucleotide variant
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NM_000243.2(MEFV):c.1432C>T (p.His478Tyr)

Allele ID
17596
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 3247171 (GRCh38) GRCh38 UCSC
16: 3297171 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.3247171G>A
NC_000016.9:g.3297171G>A
NM_000243.2:c.1432C>T NP_000234.1:p.His478Tyr missense
... more HGVS
Protein change
H478Y
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
UniProtKB: O15553#VAR_028333
OMIM: 608107.0020
dbSNP: rs104895105
ClinGen: CA115610
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter May 28, 2019 RCV000083696.2
Pathogenic 1 no assertion criteria provided Jan 1, 2004 RCV000002666.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MEFV No evidence available No evidence available GRCh38
GRCh37
428 471

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Familial Mediterranean fever
Allele origin: unknown
Mendelics
Accession: SCV001139855.1
Submitted: (Oct 22, 2019)
Evidence details
Pathogenic
(Jan 01, 2004)
no assertion criteria provided
Method: literature only
FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
Allele origin: germline
OMIM
Accession: SCV000022824.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
not provided
(-)
no assertion provided
Method: not provided
Familial Mediterranean fever
Allele origin: not provided
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
Accession: SCV000115784.1
Submitted: (Jun 07, 2010)
Evidence details

Citations for this variant

Title Author Journal Year Link
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder? Aldea A American journal of medical genetics. Part A 2004 PMID: 14679589

Record last updated Jan 09, 2020