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NM_002755.4(MAP2K1):c.1023-4T>A AND Cardiofaciocutaneous syndrome 3

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 26, 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:
RCV003457221.1

Allele description [Variation Report for NM_002755.4(MAP2K1):c.1023-4T>A]

NM_002755.4(MAP2K1):c.1023-4T>A

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.1023-4T>A
HGVS:
  • NC_000015.10:g.66489714T>A
  • NG_008305.1:g.107842T>A
  • NG_051234.1:g.13102A>T
  • NM_001411065.1:c.879-4T>A
  • NM_002755.4:c.1023-4T>AMANE SELECT
  • LRG_725:g.107842T>A
  • NC_000015.9:g.66782052T>A
Molecular consequence:
  • NM_001411065.1:c.879-4T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002755.4:c.1023-4T>A - intron variant - [Sequence Ontology: SO:0001627]

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
SCV004177113Clinical Genomics Laboratory, Washington University in St. Louis
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 26, 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 Clinical Genomics Laboratory, Washington University in St. Louis, SCV004177113.1

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

Description

A MAP2K1 c.1023-4T>A variant was identified at a near heterozygous allelic fraction of 49%, which may be consistent with germline origin. To our knowledge, this variant has not been reported in the medical literature in relation to MAP2K1-related disease. This variant is only observed on 2/152,174 alleles in the general population (gnomAD v.3.1.2), indicating it is not a common variant. Computational predictors indicate that the variant has no impact on splicing, evidence that this variant may not have a damaging effect on MAP2K1 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868) and based on ClinGen's RASopathy expert panel (Gelb BD et al. PMID: 29493581), the clinical significance of this variant is uncertain at this time.

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

Last Updated: Sep 29, 2024