rs688011
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000526487.6(TTC12-DT):n.154-2816C>T 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 0.271 in 152,098 control chromosomes in the GnomAD database, including 5,920 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
ENST00000526487.6 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 |
---|---|---|---|---|---|---|---|
LOC124902814 | XR_007062991.1 | n.128-2816C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTC12-DT | ENST00000526487.6 | n.154-2816C>T | intron_variant, non_coding_transcript_variant | 3 | |||||
TTC12-DT | ENST00000529416.5 | n.134+409C>T | intron_variant, non_coding_transcript_variant | 3 | |||||
TTC12-DT | ENST00000533504.3 | n.147-2816C>T | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.271 AC: 41137AN: 151980Hom.: 5911 Cov.: 33
GnomAD4 genome ? AF: 0.271 AC: 41166AN: 152098Hom.: 5920 Cov.: 33 AF XY: 0.274 AC XY: 20343AN XY: 74362
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at