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]

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Variant: NM_002755.3(MAP2K1):c.1068+12_1068+15delTATT

CA134591

44586 (ClinVar)

Gene: MAP2K1

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: a8e91870-1b3e-43d5-b3b5-f0559a0e3599

Approved on: 2017-05-09

Published on: 2018-12-10

HGVS expressions

NM_002755.3:c.1068+8_1068+11delTATT

NM_002755.3:c.1068+12_1068+15delTATT

NM_002755.3(MAP2K1):c.1068+12_1068+15delTATT

NC_000015.10:g.66489775_66489778del

CM000677.2:g.66489775_66489778del

NC_000015.9:g.66782113_66782116del

CM000677.1:g.66782113_66782116del

NC_000015.8:g.64569167_64569170del

NG_008305.1:g.107903_107906del

NG_051234.1:g.13042_13045del

NM_002755.3:c.1068+12_1068+15del

NM_006049.3:c.*965_*968del

NR_138061.1:n.1484_1487del

ENST00000307102.9:c.1068+12_1068+15del

ENST00000566326.1:c.540+12_540+15del

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.1068+12_1068+15delTATT variant in the MAP2K1 gene is 0.285% (214/66740) of European 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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