rs8105885
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_160728.1(LOC105376917):n.147+1560G>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 0.12 in 151,900 control chromosomes in the GnomAD database, including 1,384 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
NR_160728.1 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 |
---|---|---|---|---|---|---|---|
LOC105376917 | NR_160728.1 | n.147+1560G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105376917 | NR_160727.1 | n.147+1560G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF98 | ENST00000593802.1 | c.48+1560G>A | intron_variant | 3 | |||||
ZNF98 | ENST00000599879.1 | n.147+1560G>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.120 AC: 18202AN: 151784Hom.: 1377 Cov.: 32
GnomAD4 genome ? AF: 0.120 AC: 18226AN: 151900Hom.: 1384 Cov.: 32 AF XY: 0.126 AC XY: 9350AN XY: 74206
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at