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]

Variant: NM_030662.3(MAP2K2):c.1074G>A (p.Ala358=)

Curation History

CA9090706

261928 (ClinVar)

Gene: MAP2K2

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 6ce143a5-0894-4639-94d0-072a2ffe2774

Approved on: 2017-05-09

Published on: 2018-12-10

HGVS expressions

NM_030662.3:c.1074G>A

NM_030662.3(MAP2K2):c.1074G>A (p.Ala358=)

NC_000019.10:g.4094471C>T

CM000681.2:g.4094471C>T

NC_000019.9:g.4094469C>T

CM000681.1:g.4094469C>T

NC_000019.8:g.4045469C>T

NG_007996.1:g.34658G>A

ENST00000262948.9:c.1074G>A

ENST00000394867.8:c.783G>A

ENST00000597263.5:n.259G>A

ENST00000599021.1:n.184G>A

ENST00000600584.5:n.2523G>A

ENST00000601786.5:n.1375G>A

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.1074G>A (p.Ala358=) variant in the MAP2K2 gene is 0.174% (10/3124) 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

Curation History

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