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Please note this is a beta version of the ClinGen Evidence Repository. This resource is intended to provide access to variant level evidence used and applied by ClinGen Variant Curation Expert Panels in the classification of variants. In this beta version, the evidence is limited to curation notes and referenced literature (PMIDs).

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Criteria Specification: CSpec Registry PDF

Variant: NM_002755.3(MAP2K1):c.848C>T (p.Ala283Val)

CA134622

40756 (ClinVar)

Gene: MAP2K1
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance

HGVS expressions

NM_002755.3:c.848C>T
NM_002755.3(MAP2K1):c.848C>T (p.Ala283Val)
NC_000015.10:g.66485144C>T
CM000677.2:g.66485144C>T
NC_000015.9:g.66777482C>T
CM000677.1:g.66777482C>T
NC_000015.8:g.64564536C>T
NG_008305.1:g.103272C>T
ENST00000307102.9:c.848C>T
ENST00000566326.1:c.320C>T

Benign

Met criteria codes 2
BA1 BP5

Expert Panel

Evidence Links 0

Evidence submitted by expert panel
RASopathy VCEP
The filtering allele frequency of the c.848C>T (p.Ala283Val) variant in the MAP2K1 gene is 0.052% for African chromosomes by the Exome Aggregation Consortium (10/10366 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1). This variant has been identified in a patient with an alternate molecular basis for disease (BP5; Partners LMM, GeneDx internal data; GTR ID: 21766, 26957; ClinVar SCV000207935.12; SCV000061262.5). In summary, this variant meets criteria to be classified as benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BA1, BP5.
Met criteria codes
BA1
0.096% (10/10366) in Africans (ExAC)
BP5
SCV000207935; SCV000061262
Approved on: 2017-05-09
Published on: 2018-12-10
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