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NM_030662.4(MAP2K2):c.823C>T (p.Leu275=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 17, 2022
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:
RCV002426540.2

Allele description [Variation Report for NM_030662.4(MAP2K2):c.823C>T (p.Leu275=)]

NM_030662.4(MAP2K2):c.823C>T (p.Leu275=)

Gene:
MAP2K2:mitogen-activated protein kinase kinase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_030662.4(MAP2K2):c.823C>T (p.Leu275=)
Other names:
p.L275L; NM_030662.3(MAP2K2):c.823C>T
HGVS:
  • NC_000019.10:g.4099297G>A
  • NG_007996.1:g.29832C>T
  • NM_030662.4:c.823C>TMANE SELECT
  • NP_109587.1:p.Leu275=
  • NP_109587.1:p.Leu275=
  • LRG_750t1:c.823C>T
  • LRG_750:g.29832C>T
  • LRG_750p1:p.Leu275=
  • NC_000019.9:g.4099295G>A
  • NM_030662.3:c.823C>T
  • c.823C>T
  • p.Leu275Leu
Links:
dbSNP: rs145934142
NCBI 1000 Genomes Browser:
rs145934142
Molecular consequence:
  • NM_030662.4:c.823C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002680956Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 17, 2022) 		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, SCV002680956.2

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

Description

This alteration is classified as likely 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: Sep 29, 2024