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.1194C>T (p.Thr398=)

CA137913

40846 (ClinVar)

Gene: MAP2K2

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 4dda494b-f286-41e8-b20f-481268ec7d54

Approved on: 2017-05-09

Published on: 2018-12-10

HGVS expressions

NM_030662.3:c.1194C>T

NM_030662.3(MAP2K2):c.1194C>T (p.Thr398=)

NC_000019.10:g.4090607G>A

CM000681.2:g.4090607G>A

NC_000019.9:g.4090605G>A

CM000681.1:g.4090605G>A

NC_000019.8:g.4041605G>A

NG_007996.1:g.38522C>T

ENST00000262948.9:c.1194C>T

ENST00000394867.8:c.903C>T

ENST00000597263.5:n.379C>T

ENST00000599021.1:n.304C>T

ENST00000600584.5:n.2643C>T

ENST00000601786.5:n.1495C>T

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.1194C>T (p.Thr398=) variant in the MAP2K2 gene is 0.159% (19/7836) of European 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

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