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NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 2, 2021
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:
RCV002254296.9

Allele description [Variation Report for NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro)]

NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro)

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.167A>C (p.Gln56Pro)
HGVS:
  • NC_000015.10:g.66435113A>C
  • NG_008305.1:g.53241A>C
  • NM_002755.4:c.167A>CMANE SELECT
  • NP_002746.1:p.Gln56Pro
  • NP_002746.1:p.Gln56Pro
  • LRG_725t1:c.167A>C
  • LRG_725:g.53241A>C
  • LRG_725p1:p.Gln56Pro
  • NC_000015.9:g.66727451A>C
  • NM_002755.3:c.167A>C
Protein change:
Q56P; GLN56PRO
Links:
OMIM: 176872.0006; dbSNP: rs1057519729
NCBI 1000 Genomes Browser:
rs1057519729
Molecular consequence:
  • NM_002755.4:c.167A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002525688Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 2, 2021) 		somaticclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot 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 Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002525688.1

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

Description

The c.167A>C (p.Gln56Pro) variant in MAP2K1 has been previously reported as a somatic finding in non-syndromic extracranial arteriovenous malformations (PMID: 28190454) and melorheostosis (PMID: 29643386). This variant overlaps those reported as oncogenic variants found in multiple tumor types (COSMIC and cBioPortal Databases). This variant has not been observed in large population studies (Genome Aggregation Database v2.1.1). The p.Gln56Pro variant is located at a highly-conserved site near the negative regulatory domain of the protein product (PMID: 29643386). Functional studies have demonstrated that the p.Gln56Pro substitution results in activation of downstream signaling (PMID: 25351745).

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

Last Updated: Oct 8, 2024