NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 7, 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:: RCV000622573.12

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:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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
SCV000743064	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 7, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 11464238, 23588594, 23981758, 24251727, 9668175 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000743064

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 7, 2023)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

The spectrum of Familial Mediterranean Fever (FMF) mutations.

Touitou I.

Eur J Hum Genet. 2001 Jul;9(7):473-83. Review.

PubMed [citation]

PMID:: 11464238

MEFV gene mutations in Turkish children with juvenile idiopathic arthritis.

Comak E, Dogan CS, Akman S, Koyun M, Gokceoglu AU, Keser I.

Eur J Pediatr. 2013 Aug;172(8):1061-7. doi: 10.1007/s00431-013-2003-x. Epub 2013 Apr 16.

PubMed [citation]

PMID:: 23588594

See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000743064.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

The p.K695R pathogenic mutation (also known as c.2084A>G), located in coding exon 10 of the MEFV gene, results from an A to G substitution at nucleotide position 2084. The lysine at codon 695 is replaced by arginine, an amino acid with highly similar properties. This variant was detected in the homozygous state in an individual with familial Mediterranean fever (FMF) phenotype type I (Comak E et al. Eur. J. Pediatr., 2013 Aug;172:1061-7). This mutation has been described in individuals with FMF from multiple different ethnic backgrounds (Touitou I. Eur. J. Hum. Genet., 2001 Jul;9:473-83). This alteration has a higher carrier frequency than expected in the Ashkenazi Jewish population, which is suggestive of reduced penetrance. In addition, this alteration was seen in three Jewish individuals, two of which were asymptomatic (Bernot A et al. Hum. Mol. Genet., 1998 Aug;7:1317-25). This alteration was also detected in one child with Henoch–Schönlein purpura and in one individual with very mild FMF symptoms (Altug U et al. Int J Rheum Dis, 2013 Jun;16:347-51; Sedivá A et al. Clin. Genet., 2014 Dec;86:564-9). In addition, this alteration is predicted to be tolerated by BayesDel in silico analysis. Since supporting evidence is conflicting at this time, the clinical significance of this alteration remains unclear.

#	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: Oct 13, 2024

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