NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys) AND MEFV-related disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 14, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV004543438.2

Allele description [Variation Report for NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)]

NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)

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.2149C>T (p.Arg717Cys)

HGVS:

NC_000016.10:g.3243338G>A
NG_007871.1:g.18290C>T
NM_000243.3:c.2149C>TMANE SELECT
NM_001198536.2:c.*353C>T
NP_000234.1:p.Arg717Cys
NP_000234.1:p.Arg717Cys
LRG_190t1:c.2149C>T
LRG_190:g.18290C>T
LRG_190p1:p.Arg717Cys
NC_000016.9:g.3293338G>A
NM_000243.2:c.2149C>T

Protein change:

R717C

Links:

dbSNP: rs104895192

NCBI 1000 Genomes Browser:

rs104895192

Molecular consequence:

NM_001198536.2:c.*353C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000243.3:c.2149C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: MEFV-related disorder
Synonyms:: MEFV-related disorders; MEFV-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004772957	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (Feb 14, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004772957

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(Feb 14, 2020)

germline

clinical testing

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004772957.2

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	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: Nov 24, 2024

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