Variant: NM_002755.3(MAP2K1):c.1098T>C (p.Ala366=)

CA7624163

448949 (ClinVar)

Gene: MAP2K1

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

UUID: 9581cc43-8005-4a02-8e31-2c7cb18c67df

Approved on: 2017-05-09

Published on: 2018-12-10

HGVS expressions

NM_002755.3:c.1098T>C
NM_002755.3(MAP2K1):c.1098T>C (p.Ala366=)
NC_000015.10:g.66490531T>C
CM000677.2:g.66490531T>C
NC_000015.9:g.66782869T>C
CM000677.1:g.66782869T>C
NC_000015.8:g.64569923T>C
NG_008305.1:g.108659T>C
NG_051234.1:g.12285A>G
NM_006049.2:c.*208A>G
NM_006049.3:c.*208A>G
NR_138061.1:n.727A>G
ENST00000307102.9:c.1098T>C
ENST00000395589.6:c.*208A>G
ENST00000563480.6:c.*208A>G
ENST00000566326.1:c.570T>C

Likely Benign

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"

• Met criteria codes: BS1

Expert Panel

RASopathy VCEP

Criteria Specification Information

Evidence submitted by expert panel

RASopathy VCEP

The filtering allele frequency of the c.1098T>C (p.Ala366=) variant in the MAP2K1 gene is 0.0459% (8/8654) of East Asian chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581)

Met criteria codes

• BS1: The filtering allele frequency of the c.1098T>C (p.Ala366=) variant in the MAP2K1 gene is 0.0459% (8/8654) of East Asian chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581)