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_002755.3(MAP2K1):c.648C>T (p.Ile216=)

Curation History

CA134607

44590 (ClinVar)

Gene: MAP2K1

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 4e4166b8-f343-4e54-a3e5-aab6290a5355

Approved on: 2017-05-09

Published on: 2018-12-10

HGVS expressions

NM_002755.3:c.648C>T

NM_002755.3(MAP2K1):c.648C>T (p.Ile216=)

ENST00000307102.9:c.648C>T

ENST00000566326.1:c.120C>T

NC_000015.10:g.66481834C>T

CM000677.2:g.66481834C>T

NC_000015.9:g.66774172C>T

CM000677.1:g.66774172C>T

NC_000015.8:g.64561226C>T

NG_008305.1:g.99962C>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.648C>T (p.Ile216=) variant in the MAP2K1 gene is 0.274% (38/10402) 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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