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.823C>T (p.Leu275=)

Curation History

CA137969

40825 (ClinVar)

Gene: MAP2K2

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 83c490e2-5683-4fc1-b3be-2fa89e92f868

Approved on: 2017-05-09

Published on: 2018-12-10

HGVS expressions

NM_030662.3:c.823C>T

NM_030662.3(MAP2K2):c.823C>T (p.Leu275=)

NC_000019.10:g.4099297G>A

CM000681.2:g.4099297G>A

NC_000019.9:g.4099295G>A

CM000681.1:g.4099295G>A

NC_000019.8:g.4050295G>A

NG_007996.1:g.29832C>T

ENST00000262948.9:c.823C>T

ENST00000394867.8:c.532C>T

ENST00000593364.5:n.770C>T

ENST00000595715.1:n.638C>T

ENST00000597263.5:n.169+1722C>T

ENST00000599021.1:n.29+1722C>T

ENST00000600584.5:n.1383C>T

ENST00000601786.5:n.1124C>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.823C>T (p.Leu275=) variant in the MAP2K2 gene is 0.2% (19/6224) 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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