rs10506318
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000663306.1(ENSG00000286069):n.279-54461T>G 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 0.104 in 152,212 control chromosomes in the GnomAD database, including 2,504 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
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 |
---|---|---|---|---|---|---|---|
LOC107984525 | XR_002957415.2 | n.250+24434T>G | intron_variant, non_coding_transcript_variant | ||||
LOC107984525 | XR_007063320.1 | n.27+21758T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000663306.1 | n.279-54461T>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000652339.1 | n.214-54461T>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000654713.1 | n.214+54510T>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000656247.1 | n.143+43408T>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.104 AC: 15795AN: 152094Hom.: 2492 Cov.: 32
GnomAD4 genome ? AF: 0.104 AC: 15844AN: 152212Hom.: 2504 Cov.: 32 AF XY: 0.101 AC XY: 7481AN XY: 74432
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at