NM_000243.3(MEFV):c.195C>T (p.Tyr65=) AND Familial Mediterranean fever

Germline classification:: Likely benign (3 submissions)
Last evaluated:: Jan 21, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000083726.18

Allele description [Variation Report for NM_000243.3(MEFV):c.195C>T (p.Tyr65=)]

NM_000243.3(MEFV):c.195C>T (p.Tyr65=)

Gene:

MEFV:MEFV innate immunity regulator, pyrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000243.3(MEFV):c.195C>T (p.Tyr65=)

HGVS:

NC_000016.10:g.3256393G>A
NG_007871.1:g.5235C>T
NM_000243.3:c.195C>TMANE SELECT
NM_001198536.2:c.195C>T
NP_000234.1:p.Tyr65=
NP_000234.1:p.Tyr65=
NP_001185465.2:p.Tyr65=
LRG_190t1:c.195C>T
LRG_190:g.5235C>T
LRG_190p1:p.Tyr65=
NC_000016.9:g.3306393G>A
NM_000243.1:c.195C>T
NM_000243.2:c.195C>T

Links:

dbSNP: rs104895077

NCBI 1000 Genomes Browser:

rs104895077

Molecular consequence:

NM_000243.3:c.195C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001198536.2:c.195C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Familial Mediterranean fever (FMF)
Synonyms:: POLYSEROSITIS, FAMILIAL PAROXYSMAL; POLYSEROSITIS, RECURRENT; Periodic peritonitis; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018088; MedGen: C0031069; Orphanet: 342; OMIM: 249100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000115819	Unité médicale des maladies autoinflammatoires, CHRU Montpellier	no classification provided	not provided	not provided	not provided	PubMed (1) [See all records that cite this PMID]
SCV000753989	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 21, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002087479	Natera, Inc.	no assertion criteria provided	Likely benign (Feb 7, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000115819

Unité médicale des maladies autoinflammatoires, CHRU Montpellier

no classification provided

not provided

PubMed (1)
[See all records that cite this PMID]

SCV000753989

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 21, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002087479

Natera, Inc.

no assertion criteria provided

Likely benign
(Feb 7, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

Bernot A, da Silva C, Petit JL, Cruaud C, Caloustian C, Castet V, Ahmed-Arab M, Dross C, Dupont M, Cattan D, Smaoui N, Dodé C, Pêcheux C, Nédelec B, Medaxian J, Rozenbaum M, Rosner I, Delpech M, Grateau G, Demaille J, Weissenbach J, Touitou I.

Hum Mol Genet. 1998 Aug;7(8):1317-25.

PubMed [citation]

PMID:: 9668175

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000115819.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Invitae, SCV000753989.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Natera, Inc., SCV002087479.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 20, 2024

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