Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

Variant: NM_030662.3(MAP2K2):c.1093-6T>C

CA137912

46228 (ClinVar)

Gene: MAP2K2

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 02ac4895-4755-4b08-a354-b128d2bb4e61

Approved on: 2017-05-09

Published on: 2018-12-10

HGVS expressions

NM_030662.3:c.1093-6T>C

NM_030662.3(MAP2K2):c.1093-6T>C

NC_000019.10:g.4090714A>G

CM000681.2:g.4090714A>G

NC_000019.9:g.4090712A>G

CM000681.1:g.4090712A>G

NC_000019.8:g.4041712A>G

NG_007996.1:g.38415T>C

ENST00000262948.9:c.1093-6T>C

ENST00000394867.8:c.802-6T>C

ENST00000597263.5:n.278-6T>C

ENST00000599021.1:n.203-6T>C

ENST00000600584.5:n.2542-6T>C

ENST00000601786.5:n.1394-6T>C

Benign

BA1

Evidence Links 0

Expert Panel

RASopathy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

RASopathy VCEP

The filtering allele frequency of the c.1093-6T>C variant in the MAP2K2 gene is 0.166% (9/2834) of African chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)

BA1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.