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]

Variant: NM_002880.3(RAF1):c.66T>G (p.Phe22Leu)

Curation History

CA134746

40583 (ClinVar)

Gene: RAF1

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: f0461c83-c8eb-4af2-abbc-482d7a9b30f5

Approved on: 2017-04-03

Published on: 2018-12-10

HGVS expressions

NM_002880.3:c.66T>G

NM_002880.3(RAF1):c.66T>G (p.Phe22Leu)

NC_000003.12:g.12618656A>C

CM000665.2:g.12618656A>C

NC_000003.11:g.12660155A>C

CM000665.1:g.12660155A>C

NC_000003.10:g.12635155A>C

NG_007467.1:g.50524T>G

NM_001354689.1:c.66T>G

NM_001354690.1:c.66T>G

NM_001354691.1:c.-65T>G

NM_001354692.1:c.-65T>G

NM_001354693.1:c.66T>G

NM_001354694.1:c.-65T>G

NM_001354695.1:c.-65T>G

NR_148940.1:n.481T>G

NR_148941.1:n.481T>G

NR_148942.1:n.481T>G

ENST00000251849.8:c.66T>G

ENST00000416093.1:c.66T>G

ENST00000423275.5:c.66T>G

ENST00000442415.6:c.66T>G

Likely Benign

BS4 BP5

Evidence Links 0

Expert Panel

RASopathy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

RASopathy VCEP

The c.66T>G (p.Phe22Leu) variant has been identified in patients with clinical features of a RASopathy, however the variant did not segregate with disease in affected family members (BS4; GeneDx, Partners LMM, Invitae internal data GTR ID's: 26957, 21766, 500031; ClinVar SCV000218672.4; SCV000061358.5). This variant has been identified in a patient with an alternate molecular basis for disease (BP5; LMM internal data; SCV000061358.5). In summary, this variant meets criteria to be classified as likely benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BS4, BP5.

BS4

BP5

This variant has been identified in a patient with an alternate molecular basis for disease (BP5; LMM internal data; SCV000061358.5).

Curation History

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