9-20764871-T-G
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PVS1PM2
The NM_001375567.1(FOCAD):c.497T>G(p.Leu166Ter) variant causes a stop gained, splice region change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_001375567.1 stop_gained, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOCAD | NM_001375567.1 | c.497T>G | p.Leu166Ter | stop_gained, splice_region_variant | 7/44 | ENST00000338382.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOCAD | ENST00000338382.11 | c.497T>G | p.Leu166Ter | stop_gained, splice_region_variant | 7/44 | 5 | NM_001375567.1 | P1 | |
FOCAD | ENST00000380249.5 | c.497T>G | p.Leu166Ter | stop_gained, splice_region_variant | 9/46 | 1 | P1 | ||
FOCAD | ENST00000605031.5 | n.273T>G | splice_region_variant, non_coding_transcript_exon_variant | 4/5 | 4 | ||||
FOCAD | ENST00000604103.1 | n.290-3T>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at