rs1312161630
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PVS1PM2
The NM_001407446.1(APC):c.99C>A(p.Cys33Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. C33C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001407446.1 stop_gained
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 |
---|---|---|---|---|---|---|---|
APC | NM_001407446.1 | c.99C>A | p.Cys33Ter | stop_gained | 1/16 | ||
APC | NM_001354897.2 | c.99C>A | p.Cys33Ter | stop_gained | 1/15 | ||
APC | NM_001127511.3 | c.99C>A | p.Cys33Ter | stop_gained | 1/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
APC | ENST00000507379.6 | c.99C>A | p.Cys33Ter | stop_gained | 1/14 | 2 | |||
APC | ENST00000509732.6 | c.-19+167C>A | intron_variant | 4 | P1 | ||||
APC | ENST00000505350.2 | c.99C>A | p.Cys33Ter | stop_gained, NMD_transcript_variant | 1/16 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.