1-40304753-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001852.4(COL9A2):c.1161+41C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000728 in 1,374,172 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001852.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COL9A2 | ENST00000372748.8 | c.1161+41C>A | intron_variant | Intron 22 of 31 | 1 | NM_001852.4 | ENSP00000361834.3 | |||
COL9A2 | ENST00000482722.5 | n.1464+41C>A | intron_variant | Intron 21 of 30 | 1 | |||||
COL9A2 | ENST00000466267.1 | n.126+41C>A | intron_variant | Intron 2 of 10 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 7.28e-7 AC: 1AN: 1374172Hom.: 0 Cov.: 28 AF XY: 0.00 AC XY: 0AN XY: 678342
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.