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NM_000243.3(MEFV):c.*133G>A

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 22, 2021)
Last evaluated:
Sep 7, 2018
Accession:
VCV000224066.3
Variation ID:
224066
Description:
single nucleotide variant
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NM_000243.3(MEFV):c.*133G>A

Allele ID
225794
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 3243008 (GRCh38) GRCh38 UCSC
16: 3293008 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.3243008C>T
NC_000016.9:g.3293008C>T
NG_007871.1:g.18620G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:3243007:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.07748 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.01591
Trans-Omics for Precision Medicine (TOPMed) 0.01982
1000 Genomes Project 0.07748
Trans-Omics for Precision Medicine (TOPMed) 0.02853
The Genome Aggregation Database (gnomAD) 0.02905
Links
ClinGen: CA351244
dbSNP: rs2075849
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Jan 13, 2018 RCV000209942.3
Benign 1 criteria provided, single submitter Sep 7, 2018 RCV001689739.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MEFV No evidence available No evidence available GRCh38
GRCh37
692 740

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 25, 2016)
criteria provided, single submitter
Method: case-control
Familial Mediterranean fever
Allele origin: somatic
Atomic Energy Commission of Syria (AECS)
Additional submitter:
Plant Biotechnology Division,Atomic Energy Commission of Syria (AECS)
Accession: SCV000265503.1
Submitted: (Jan 25, 2016)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Familial Mediterranean fever
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000396756.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Sep 07, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001912983.1
Submitted: (Sep 22, 2021)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs2075849...

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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 Nov 27, 2021