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_002880.3(RAF1):c.1914G>A (p.Thr638=)

CA134715

40628 (ClinVar)

Gene: RAF1
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 5dd1c397-b2a2-4954-bbbb-583d4a4576dc

HGVS expressions

NM_002880.3:c.1914G>A
NM_002880.3(RAF1):c.1914G>A (p.Thr638=)
NM_001354689.1:c.1974G>A
NM_001354690.1:c.1914G>A
NM_001354691.1:c.1671G>A
NM_001354692.1:c.1671G>A
NM_001354693.1:c.1815G>A
NM_001354694.1:c.1731G>A
NM_001354695.1:c.1572G>A
NR_148940.1:n.2442G>A
NR_148941.1:n.2388G>A
NR_148942.1:n.2327G>A
ENST00000251849.8:c.1914G>A
ENST00000423275.5:c.*1591G>A
ENST00000432427.2:n.1551G>A
ENST00000442415.6:c.1974G>A
ENST00000471449.1:n.603G>A
NC_000003.12:g.12584547C>T
CM000665.2:g.12584547C>T
NC_000003.11:g.12626046C>T
CM000665.1:g.12626046C>T
NC_000003.10:g.12601046C>T
NG_007467.1:g.84633G>A

Benign

Met criteria codes 1
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.1914G>A (p.Thr638=) variant in the RAF1 gene is 0.926% (174/16512) of South Asian chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
Met criteria codes
BA1
The filtering allele frequency of the c.1914G>A (p.Thr638=) variant in the RAF1 gene is 0.926% (174/16512) of South Asian chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
Approved on: 2017-04-18
Published on: 2018-12-10
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