rs2462692
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000664549.1(ENSG00000287277):n.190+15987A>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 0.000407 in 152,278 control chromosomes in the GnomAD database, including 1 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
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105376387 | XR_007062046.1 | n.363+17338A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000664549.1 | n.190+15987A>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000666104.1 | n.135+15987A>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000668409.1 | n.153+15987A>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.000414 AC: 63AN: 152160Hom.: 1 Cov.: 31
GnomAD4 genome ? AF: 0.000407 AC: 62AN: 152278Hom.: 1 Cov.: 31 AF XY: 0.000470 AC XY: 35AN XY: 74450
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at