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NM_000243.2(MEFV):c.297C>T (p.Asn99=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(3);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000097514.9
Variation ID:
97514
Description:
single nucleotide variant
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NM_000243.2(MEFV):c.297C>T (p.Asn99=)

Allele ID
103406
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 3254771 (GRCh38) GRCh38 UCSC
16: 3304771 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_190:g.6857C>T
NC_000016.10:g.3254771G>A
NC_000016.9:g.3304771G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:3254770:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00030
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00047
The Genome Aggregation Database (gnomAD), exomes 0.00052
Exome Aggregation Consortium (ExAC) 0.00037
The Genome Aggregation Database (gnomAD) 0.00016
Links
dbSNP: rs104895175
ClinGen: CA280580
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 Aug 28, 2019 RCV000588269.3
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Dec 2, 2020 RCV000083766.6
Benign 1 no assertion criteria provided Jan 10, 2020 RCV001276302.1
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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
674 722

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 06, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001156671.1
Submitted: (Aug 05, 2019)
Evidence details
Benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Familial Mediterranean fever
Allele origin: germline
Invitae
Accession: SCV000753994.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Aug 28, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000696065.2
Submitted: (Sep 24, 2019)
Evidence details
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Familial Mediterranean fever
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000396785.3
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
(Jan 10, 2020)
no assertion criteria provided
Method: clinical testing
Autosomal dominant familial Mediterranean fever
Allele origin: germline
Natera, Inc.
Accession: SCV001462432.1
Submitted: (Dec 28, 2020)
Evidence details
not provided
(-)
no assertion provided
Method: not provided
Familial Mediterranean fever
Allele origin: not provided
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
Accession: SCV000115862.1
Submitted: (Jun 07, 2010)
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 rs104895175...

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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 Sep 18, 2021