X-75780114-G-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007068273.1(LOC107985664):n.822-11178G>T 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 0.182 in 110,666 control chromosomes in the GnomAD database, including 1,963 homozygotes. There are 6,150 hemizygotes in GnomAD. 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_007068273.1 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 |
---|---|---|---|---|---|---|---|
LOC107985664 | XR_007068273.1 | n.822-11178G>T | intron_variant, non_coding_transcript_variant | ||||
LOC107985664 | XR_001755892.2 | n.822-11178G>T | intron_variant, non_coding_transcript_variant | ||||
LOC107985664 | XR_001755894.2 | n.822-11568G>T | intron_variant, non_coding_transcript_variant | ||||
LOC107985664 | XR_007068272.1 | n.958-11568G>T | 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: 0.182 AC: 20092AN: 110613Hom.: 1959 Cov.: 23 AF XY: 0.187 AC XY: 6144AN XY: 32839
GnomAD4 genome ? AF: 0.182 AC: 20106AN: 110666Hom.: 1963 Cov.: 23 AF XY: 0.187 AC XY: 6150AN XY: 32902
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at