NM_000243.3(MEFV):c.124C>T (p.Arg42Trp) AND Autoinflammatory syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 26, 2017
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:: RCV002262821.10

Allele description [Variation Report for NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)]

NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)

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.124C>T (p.Arg42Trp)

HGVS:

NC_000016.10:g.3256464G>A
NG_007871.1:g.5164C>T
NM_000243.3:c.124C>TMANE SELECT
NM_001198536.2:c.124C>T
NP_000234.1:p.Arg42Trp
NP_000234.1:p.Arg42Trp
NP_001185465.2:p.Arg42Trp
LRG_190t1:c.124C>T
LRG_190:g.5164C>T
LRG_190p1:p.Arg42Trp
NC_000016.9:g.3306464G>A
NM_000243.2:c.124C>T
O15553:p.Arg42Trp

Protein change:

R42W

Links:

UniProtKB: O15553#VAR_028326; dbSNP: rs61754767

NCBI 1000 Genomes Browser:

rs61754767

Molecular consequence:

NM_000243.3:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001198536.2:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autoinflammatory syndrome
Identifiers:: MONDO: MONDO:0019751; MedGen: C3890737

Recent activity

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vinorine synthase-like [Cucumis melo var. makuwa]
vinorine synthase-like [Cucumis melo var. makuwa]
gi|1735202825|gb|KAA0044623.1||gnl| STE|E6C27_scaffold46G003740

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002543696	Genome Diagnostics Laboratory, The Hospital for Sick Children	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 26, 2017)	germline	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

SCV002543696

Genome Diagnostics Laboratory, The Hospital for Sick Children

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 26, 2017)

germline

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

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 Genome Diagnostics Laboratory, The Hospital for Sick Children, SCV002543696.1

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

Last Updated: Nov 3, 2024

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