Variant: NM_030662.3(MAP2K2):c.*8C>T

CA137903

46223 (ClinVar)

Gene: MAP2K2

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

UUID: ccf6cba7-1870-484b-aeae-e6fcd0cace13

HGVS expressions

NM_030662.3:c.*8C>T
NM_030662.3(MAP2K2):c.*8C>T
ENST00000262948.9:c.*8C>T
ENST00000394867.8:c.*8C>T
ENST00000597263.5:n.396C>T
ENST00000600584.5:n.2660C>T
ENST00000601786.5:n.1512C>T
NC_000019.10:g.4090590G>A
CM000681.2:g.4090590G>A
NC_000019.9:g.4090588G>A
CM000681.1:g.4090588G>A
NC_000019.8:g.4041588G>A
NG_007996.1:g.38539C>T

Likely Benign

• Met criteria codes: BP7 BP5

Expert Panel

RASopathy VCEP

Criteria Specification Information

Evidence submitted by expert panel

RASopathy VCEP

The c.*8C>T variant in MAP2K2 has been observed in at least 6 individuals who underwent testing for RASopathies (PS4 not met; GeneDx, LMM internal data; GTR ID's: 26957, 21766; SCV000063150.4, SCV000170190.9). This variant is a synonymous (silent) variant at a nucleotide that is not highly conserved and is not predicted to impact splicing (BP7). This variant has been identified in a patient with an alternate molecular basis for disease (BP5; GeneDx internal data, SCV000170190.9). In summary, this variant meets criteria to be classified as likely benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BP7, BP5.

Met criteria codes

• BP7: This variant is a synonymous (silent) variant at a nucleotide that is not highly conserved and is not predicted to impact splicing (BP7).
• BP5: This variant has been identified in a patient with an alternate molecular basis for disease (BP5; GeneDx internal data, SCV000170190.9).

Approved on: 2017-05-09

Published on: 2018-12-10