17-28222690-T-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000658960.1(ENSG00000287721):n.828T>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 151,924 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
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 |
---|---|---|---|---|---|---|---|
LOC105371710 | XR_007065685.1 | n.74+5077A>T | intron_variant, non_coding_transcript_variant | ||||
LOC105371710 | XR_007065684.1 | n.74+5077A>T | intron_variant, non_coding_transcript_variant | ||||
LOC105371710 | XR_934638.2 | n.74+5077A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000658960.1 | n.828T>A | non_coding_transcript_exon_variant | 3/4 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151924Hom.: 0 Cov.: 31
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151924Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74176
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at