The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

  • See Evidence submitted by expert panel for details.

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

CA134622

40756 (ClinVar)

Gene: MAP2K1
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: d798c554-02fa-4c7b-96d8-4fda7463f9de

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
BP5 BA1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
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
BP5
SCV000207935; SCV000061262
BA1
0.096% (10/10366) in Africans (ExAC)
Approved on: 2017-05-09
Published on: 2018-12-10
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.