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NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 26, 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:
RCV002254287.9

Allele description [Variation Report for NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn)]

NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn)

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.171G>T (p.Lys57Asn)
HGVS:
  • NC_000015.10:g.66435117G>T
  • NG_008305.1:g.53245G>T
  • NM_002755.4:c.171G>TMANE SELECT
  • NP_002746.1:p.Lys57Asn
  • LRG_725t1:c.171G>T
  • LRG_725:g.53245G>T
  • LRG_725p1:p.Lys57Asn
  • NC_000015.9:g.66727455G>T
  • NM_002755.3:c.171G>T
Protein change:
K57N; LYS57ASN
Links:
OMIM: 176872.0007; dbSNP: rs869025608
NCBI 1000 Genomes Browser:
rs869025608
Molecular consequence:
  • NM_002755.4:c.171G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

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
SCV002525686Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 26, 2021) 		somaticclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes3not providednot provided3not 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, SCV002525686.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
3not provided1not providednot providedclinical testing PubMed (1)

Description

This variant has been previously reported in several unrelated individuals with arteriovenous malformations, and in vitro functional studies have demonstrated that the p.Lys57Asn substitution results in activation of downstream signaling (PMID: 28190454, PMID: 29461977). This variant has not been observed in large population studies (Genome Aggregation Database v2.1.1).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyes1not providednot provided1not providednot providednot provided
2somaticyes1not providednot provided1not providednot providednot provided
3somaticyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024