rs10828088
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007062080.1(LOC105376442):n.302-3066G>A 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 0.13 in 152,210 control chromosomes in the GnomAD database, including 1,336 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
XR_007062080.1 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 |
---|---|---|---|---|---|---|---|
LOC105376442 | XR_007062080.1 | n.302-3066G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105376442 | XR_007062081.1 | n.302-3066G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105376442 | XR_930729.3 | n.302-3066G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105376442 | XR_930733.3 | n.392+3020G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
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Frequencies
GnomAD3 genomes AF: 0.130 AC: 19764AN: 152092Hom.: 1326 Cov.: 32
GnomAD4 genome AF: 0.130 AC: 19791AN: 152210Hom.: 1336 Cov.: 32 AF XY: 0.129 AC XY: 9587AN XY: 74408
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at