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NM_000243.2(MEFV):c.416C>A (p.Ala139Asp)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 3, 2020
Accession:
VCV000755528.4
Variation ID:
755528
Description:
single nucleotide variant
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NM_000243.2(MEFV):c.416C>A (p.Ala139Asp)

Allele ID
770890
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 3254652 (GRCh38) GRCh38 UCSC
16: 3304652 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.9:g.3304652G>T
NC_000016.10:g.3254652G>T
NM_000243.2:c.416C>A NP_000234.1:p.Ala139Asp missense
... more HGVS
Protein change
A139D
Other names
-
Canonical SPDI
NC_000016.10:3254651:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00026
The Genome Aggregation Database (gnomAD) 0.00022
Exome Aggregation Consortium (ExAC) 0.00026
1000 Genomes Project 0.00040
Links
dbSNP: rs575678784
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, single submitter Nov 3, 2020 RCV000932960.4
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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
674 722

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 03, 2020)
criteria provided, single submitter
Method: clinical testing
Familial Mediterranean fever
Allele origin: germline
Invitae
Accession: SCV001078653.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jan 24, 2020)
no assertion criteria provided
Method: clinical testing
Familial Mediterranean fever
Allele origin: germline
Natera, Inc.
Accession: SCV001462427.1
Submitted: (Dec 28, 2020)
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 rs575678784...

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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 Jun 06, 2021