rs12225197
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007062619.1(LOC102723370):n.649+3956G>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 0.0223 in 151,962 control chromosomes in the GnomAD database, including 227 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_007062619.1 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 |
---|---|---|---|---|---|---|---|
LOC102723370 | XR_007062619.1 | n.649+3956G>A | intron_variant, non_coding_transcript_variant | ||||
LOC102723370 | XR_007062621.1 | n.199+3956G>A | intron_variant, non_coding_transcript_variant | ||||
LOC102723370 | XR_931109.3 | n.200-1901G>A | intron_variant, non_coding_transcript_variant | ||||
LOC102723370 | XR_931110.3 | n.199+3956G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANO5 | ENST00000664026.1 | n.68+16134G>A | intron_variant, non_coding_transcript_variant | ||||||
ANO5 | ENST00000682428.1 | n.196+3956G>A | intron_variant, non_coding_transcript_variant | ||||||
ANO5 | ENST00000683812.1 | n.187-1901G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0224 AC: 3394AN: 151844Hom.: 228 Cov.: 32
GnomAD4 genome ? AF: 0.0223 AC: 3390AN: 151962Hom.: 227 Cov.: 32 AF XY: 0.0265 AC XY: 1972AN XY: 74298
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at