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NM_002755.4(MAP2K1):c.-2A>G AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 22, 2019
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:
RCV002433489.9

Allele description [Variation Report for NM_002755.4(MAP2K1):c.-2A>G]

NM_002755.4(MAP2K1):c.-2A>G

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.-2A>G
HGVS:
  • NC_000015.10:g.66387346A>G
  • NG_008305.1:g.5474A>G
  • NM_002755.4:c.-2A>GMANE SELECT
  • LRG_725t1:c.-2A>G
  • LRG_725:g.5474A>G
  • NC_000015.9:g.66679684A>G
  • NM_002755.3:c.-2A>G
Links:
dbSNP: rs77796976
NCBI 1000 Genomes Browser:
rs77796976
Molecular consequence:
  • NM_002755.4:c.-2A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

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
SCV002750755Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Aug 22, 2019) 		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, SCV002750755.2

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

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 3, 2024