rs2408954
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The XR_001749115.3(LOC105369750):n.227-1065G>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 0.279 in 152,004 control chromosomes in the GnomAD database, including 7,254 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_001749115.3 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105369750 | XR_001749115.3 | n.227-1065G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105369750 | XR_001749116.3 | n.168-1065G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105369750 | XR_944904.3 | n.227-1065G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.279 AC: 42412AN: 151886Hom.: 7249 Cov.: 31
GnomAD4 genome ? AF: 0.279 AC: 42453AN: 152004Hom.: 7254 Cov.: 31 AF XY: 0.276 AC XY: 20520AN XY: 74312
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at