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NM_002755.4(MAP2K1):c.263A>G (p.Lys88Arg) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 24, 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:
RCV004029192.1

Allele description [Variation Report for NM_002755.4(MAP2K1):c.263A>G (p.Lys88Arg)]

NM_002755.4(MAP2K1):c.263A>G (p.Lys88Arg)

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.263A>G (p.Lys88Arg)
HGVS:
  • NC_000015.10:g.66435209A>G
  • NG_008305.1:g.53337A>G
  • NM_002755.4:c.263A>GMANE SELECT
  • NP_002746.1:p.Lys88Arg
  • LRG_725t1:c.263A>G
  • LRG_725:g.53337A>G
  • NC_000015.9:g.66727547A>G
  • NM_002755.3:c.263A>G
  • p.Lys88Arg
Protein change:
K88R
Links:
dbSNP: rs762354445
NCBI 1000 Genomes Browser:
rs762354445
Molecular consequence:
  • NM_002755.4:c.263A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003965392Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 24, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003965392.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.263A>G (p.K88R) alteration is located in exon 2 (coding exon 2) of the MAP2K1 gene. This alteration results from a A to G substitution at nucleotide position 263, causing the lysine (K) at amino acid position 88 to be replaced by an arginine (R). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is not well conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). This alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 16, 2024