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.660C>A (p.Ile220=)

Curation History

CA137959

40816 (ClinVar)

Gene: MAP2K2

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: f9d2ab1b-971b-4536-826d-99d4f2dd7426

Approved on: 2017-05-09

Published on: 2018-12-10

HGVS expressions

NM_030662.3:c.660C>A

NM_030662.3(MAP2K2):c.660C>A (p.Ile220=)

NC_000019.10:g.4101064G>T

CM000681.2:g.4101064G>T

NC_000019.9:g.4101062G>T

CM000681.1:g.4101062G>T

NC_000019.8:g.4052062G>T

NG_007996.1:g.28065C>A

ENST00000262948.9:c.660C>A

ENST00000394867.8:c.369C>A

ENST00000593364.5:n.607C>A

ENST00000597008.5:n.261C>A

ENST00000597263.5:n.124C>A

ENST00000601786.5:n.961C>A

ENST00000602167.5:n.380C>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.660C>A (p.Ile220=) variant in the MAP2K2 gene is 65.271% (3631/5412) of Latino 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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