rs3117234
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000441798.1(COL11A2P1):n.411-74T>C variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.302 in 179,472 control chromosomes in the GnomAD database, including 9,446 homozygotes. 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
ENST00000441798.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL11A2P1 | ENST00000441798.1 | n.411-74T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.279 AC: 42356AN: 152066Hom.: 6464 Cov.: 32
GnomAD4 exome AF: 0.434 AC: 11852AN: 27288Hom.: 2975 AF XY: 0.424 AC XY: 6041AN XY: 14248
GnomAD4 genome ? AF: 0.278 AC: 42381AN: 152184Hom.: 6471 Cov.: 32 AF XY: 0.274 AC XY: 20369AN XY: 74410
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at