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NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg) AND Cardio-facio-cutaneous syndrome

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Feb 11, 2019
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000522848.8

Allele description [Variation Report for NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)]

NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)

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.275T>G (p.Leu92Arg)
Other names:
p.L92R:CTG>CGG; NM_002755.3(MAP2K1):c.275T>G; NM_002755.4(MAP2K1):c.275T>G
HGVS:
  • NC_000015.10:g.66435221T>G
  • NG_008305.1:g.53349T>G
  • NM_002755.4:c.275T>GMANE SELECT
  • NP_002746.1:p.Leu92Arg
  • NP_002746.1:p.Leu92Arg
  • LRG_725t1:c.275T>G
  • LRG_725:g.53349T>G
  • LRG_725p1:p.Leu92Arg
  • NC_000015.9:g.66727559T>G
  • NM_002755.3:c.275T>G
  • c.275T>G
Protein change:
L92R
Links:
dbSNP: rs397516791
NCBI 1000 Genomes Browser:
rs397516791
Molecular consequence:
  • NM_002755.4:c.275T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Cardio-facio-cutaneous syndrome
Synonyms:
Cardiofaciocutaneous syndrome; CFC syndrome
Identifiers:
MONDO: MONDO:0015280; MedGen: C1275081; Orphanet: 1340; OMIM: PS115150

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000061251Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely pathogenic
(Feb 11, 2019) 		germlineclinical testing

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

SCV000965969Service de Génétique Moléculaire, Hôpital Robert Debré
no assertion criteria provided
Likely pathogenicde novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown11not providednot providednot providedclinical testing
not providedde novoyesnot provided1not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061251.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not provided1not provided

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV000965969.1

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

Last Updated: Oct 20, 2024