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Variant: NM_002880.3(RAF1):c.-204G>C

CA180843

40576 (ClinVar)

Gene: RAF1
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 6bd24f02-d79a-47d5-8942-35606edcf339
Approved on: 2019-11-04
Published on: 2019-11-04

HGVS expressions

NM_002880.3:c.-204G>C
NM_002880.3(RAF1):c.-204G>C
NC_000003.12:g.12663990C>G
CM000665.2:g.12663990C>G
NC_000003.11:g.12705489C>G
CM000665.1:g.12705489C>G
NC_000003.10:g.12680489C>G
NG_007467.1:g.5190G>C
NM_001354689.1:c.-204G>C
NM_001354691.1:c.-427G>C
NM_001354692.1:c.-334G>C
NM_001354693.1:c.-204G>C
NM_001354694.1:c.-334G>C
NM_001354695.1:c.-334G>C
NR_148940.1:n.212G>C
NR_148941.1:n.212G>C
NR_148942.1:n.212G>C
ENST00000251849.8:c.-204G>C
ENST00000416093.1:c.-204G>C
ENST00000423275.5:c.-204G>C
ENST00000442415.6:c.-204G>C
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Benign

Met criteria codes 3
BP4 BP7 BA1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
RASopathy VCEP
The c.-204G>C variant in RAF1 is classified as benign because it has been identified in 0.15126% (95% CI of 32/15402) of non-Finnish European chromosomes in gnomAD (BA1; https://gnomad.broadinstitute.org). This variant is not located within the splice consensus sequence and computational splice site prediction tools do not predict an impact on splicing (BP4, BP7). ACMG/AMP Criteria applied: BA1, BP4, BP7.
Met criteria codes
BP4
No predicted impact to splicing. Conservation data not applicable to intronic variant. REVEL score not provided.
BP7
Variant is outside of the splice consensus site and Alamut predicts no impact to splicing.
BA1
Present in 0.15126% (95% CI of 32/15402) of non-Finnish European chromosomes in gnomAD
Curation History
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