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NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
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:
RCV000735306.10

Allele description [Variation Report for NM_000243.3(MEFV):c.2080A>G (p.Met694Val)]

NM_000243.3(MEFV):c.2080A>G (p.Met694Val)

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.2080A>G (p.Met694Val)
Other names:
M694V; NM_000243.2(MEFV):c.2080A>G(p.Met694Val)
HGVS:
  • NC_000016.10:g.3243407T>C
  • NG_007871.1:g.18221A>G
  • NM_000243.3:c.2080A>GMANE SELECT
  • NM_001198536.2:c.*284A>G
  • NP_000234.1:p.Met694Val
  • NP_000234.1:p.Met694Val
  • LRG_190t1:c.2080A>G
  • LRG_190:g.18221A>G
  • LRG_190p1:p.Met694Val
  • NC_000016.9:g.3293407T>C
  • NM_000243.2:c.2080A>G
  • O15553:p.Met694Val
  • c.2080A>G (p.Met694Val)
Protein change:
MET694VAL
Links:
UniProtKB: O15553#VAR_009062; OMIM: 608107.0001; dbSNP: rs61752717
NCBI 1000 Genomes Browser:
rs61752717
Molecular consequence:
  • NM_001198536.2:c.*284A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000243.3:c.2080A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Brachydactyly
Synonyms:
Brachydactyly syndrome; Brachydactyly (disease)
Identifiers:
MONDO: MONDO:0021004; MedGen: C0221357; Human Phenotype Ontology: HP:0001156
Name:
Autistic behavior
Identifiers:
MedGen: C0856975; Human Phenotype Ontology: HP:0000729
Name:
Stereotypic movement disorder
Synonyms:
stereotypies; stereotyped movement disorder
Identifiers:
MONDO: MONDO:0002265; MedGen: C0038273
Name:
Abnormal facial shape
Synonyms:
Dysmorphic facies; Dysmorphic facial features
Identifiers:
MedGen: C0424503; Human Phenotype Ontology: HP:0001999
Name:
Synophrys
Identifiers:
MedGen: C0431447; Human Phenotype Ontology: HP:0000664
Name:
Microcephaly
Synonyms:
Microcephaly (disease)
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
Name:
Abnormal nonverbal communicative behavior
Identifiers:
MedGen: C4021798; Human Phenotype Ontology: HP:0000758
Name:
Generalized hypotonia
Identifiers:
MedGen: C1858120; Human Phenotype Ontology: HP:0001290
Name:
Profound global developmental delay
Identifiers:
MedGen: C3553450; Human Phenotype Ontology: HP:0012736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000854459Center for Personalized Medicine, Children's Hospital Los Angeles
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicgermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Center for Personalized Medicine, Children's Hospital Los Angeles, SCV000854459.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000552474.2)		 PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot provideddiscovery
(GTR000552474.2)		not providednot providednot providednot provided

Last Updated: May 19, 2024