NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter) AND Acute febrile neutrophilic dermatosis

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 8, 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:
RCV003126882.2

Allele description [Variation Report for NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter)]

NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter)

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.1780C>T (p.Gln594Ter)
HGVS:
  • NC_000016.10:g.3243872G>A
  • NG_007871.1:g.17756C>T
  • NM_000243.3:c.1780C>TMANE SELECT
  • NM_001198536.2:c.1322C>T
  • NP_000234.1:p.Gln594Ter
  • NP_000234.1:p.Gln594Ter
  • NP_001185465.2:p.Ser441Leu
  • LRG_190t1:c.1780C>T
  • LRG_190:g.17756C>T
  • LRG_190p1:p.Gln594Ter
  • NC_000016.9:g.3293872G>A
  • NM_000243.2:c.1780C>T
Protein change:
Q594*
Links:
dbSNP: rs780770024
NCBI 1000 Genomes Browser:
rs780770024
Molecular consequence:
  • NM_001198536.2:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000243.3:c.1780C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Acute febrile neutrophilic dermatosis (AFND)
Synonyms:
Sweet Syndrome; Gomm Button disease
Identifiers:
MONDO: MONDO:0011959; MedGen: C0085077; Orphanet: 3243; OMIM: 608068

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003802032Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Feb 8, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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-Nilou Lab, SCV003802032.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024