NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) AND Familial Mediterranean fever, autosomal dominant

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 13, 2023
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:: RCV003389035.2

Allele description [Variation Report for NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)]

NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)

Genes:

LOC126862264:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521 [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.2084A>G (p.Lys695Arg)

HGVS:

NC_000016.10:g.3243403T>C
NG_007871.1:g.18225A>G
NM_000243.3:c.2084A>GMANE SELECT
NM_001198536.2:c.*288A>G
NP_000234.1:p.Lys695Arg
NP_000234.1:p.Lys695Arg
LRG_190t1:c.2084A>G
LRG_190:g.18225A>G
LRG_190p1:p.Lys695Arg
NC_000016.9:g.3293403T>C
NM_000243.1:c.2084A>G
NM_000243.2:c.2084A>G
O15553:p.Lys695Arg

Protein change:

K695R; LYS695ARG

Links:

UniProtKB: O15553#VAR_009064; OMIM: 608107.0010; dbSNP: rs104895094

NCBI 1000 Genomes Browser:

rs104895094

Molecular consequence:

NM_001198536.2:c.*288A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000243.3:c.2084A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Familial Mediterranean fever, autosomal dominant
Synonyms:: FMF, AUTOSOMAL DOMINANT; Dominant Familial Mediterranean Fever
Identifiers:: MONDO: MONDO:0007601; MedGen: C1851347; Orphanet: 342; OMIM: 134610

Recent activity

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SSSM5_212 [Synechococcus phage S-SSM5]
SSSM5_212 [Synechococcus phage S-SSM5]
Gene ID:10329154

Gene
da92e10.y1 Xenopus laevis tadpole stage 24 Xenopus laevis cDNA 5', mRNA sequence
da92e10.y1 Xenopus laevis tadpole stage 24 Xenopus laevis cDNA 5', mRNA sequence
gi|7696417|gnl|dbEST|4225515|gb|AW7 .1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004101108	Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	no assertion criteria provided	Likely pathogenic (Nov 2, 2023)	germline	clinical testing
SCV004194416	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 13, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004101108

Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

no assertion criteria provided

Likely pathogenic
(Nov 2, 2023)

germline

clinical testing

SCV004194416

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 13, 2023)

unknown

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Zotz-Klimas Genetics Lab, MVZ Zotz Klimas, SCV004101108.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004194416.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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