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NM_002755.4(MAP2K1):c.174G>T (p.Gln58His) AND Cardiofaciocutaneous syndrome 3

Germline classification:
Uncertain significance (1 submission)
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:
RCV001034615.1

Allele description [Variation Report for NM_002755.4(MAP2K1):c.174G>T (p.Gln58His)]

NM_002755.4(MAP2K1):c.174G>T (p.Gln58His)

Gene:
MAP2K1:mitogen-activated protein kinase kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.31
Genomic location:
Preferred name:
NM_002755.4(MAP2K1):c.174G>T (p.Gln58His)
HGVS:
  • NC_000015.10:g.66435120G>T
  • NG_008305.1:g.53248G>T
  • NM_002755.4:c.174G>TMANE SELECT
  • NP_002746.1:p.Gln58His
  • LRG_725t1:c.174G>T
  • LRG_725:g.53248G>T
  • NC_000015.9:g.66727458G>T
  • NM_002755.3:c.174G>T
Protein change:
Q58H
Links:
dbSNP: rs2093484335
NCBI 1000 Genomes Browser:
rs2093484335
Molecular consequence:
  • NM_002755.4:c.174G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiofaciocutaneous syndrome 3 (CFC3)
Identifiers:
MONDO: MONDO:0014113; MedGen: C3809006; Orphanet: 1340; OMIM: 615279

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001192834Institute of Human Genetics, Cologne University
no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Institute of Human Genetics, Cologne University, SCV001192834.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022