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.225C>T (p.Ile75=)

CA9091075

448952 (ClinVar)

Gene: MAP2K2

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 191bbcd7-df10-4543-9569-ef96cf4c255f

Approved on: 2017-05-09

Published on: 2018-12-10

HGVS expressions

NM_030662.3:c.225C>T

NM_030662.3(MAP2K2):c.225C>T (p.Ile75=)

ENST00000262948.9:c.225C>T

ENST00000394867.8:c.-67C>T

ENST00000599345.1:n.422C>T

NC_000019.10:g.4117497G>A

CM000681.2:g.4117497G>A

NC_000019.9:g.4117495G>A

CM000681.1:g.4117495G>A

NC_000019.8:g.4068495G>A

NG_007996.1:g.11632C>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.225C>T (p.Ile75=) variant in the MAP2K2 gene is 0.08% (20/16508) of South Asian 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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