chr10-45015960-A-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 2P and 8B. PVS1_ModerateBA1
The ENST00000456938.6(ENSG00000293022):n.618+2T>C variant causes a splice donor, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.724 in 152,158 control chromosomes in the GnomAD database, including 39,995 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 Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000456938.6 | n.618+2T>C | splice_donor_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes AF: 0.724 AC: 110097AN: 152034Hom.: 39965 Cov.: 33
GnomAD4 exome AF: 0.667 AC: 4AN: 6Hom.: 1 Cov.: 0 AF XY: 0.500 AC XY: 2AN XY: 4
GnomAD4 genome AF: 0.724 AC: 110179AN: 152152Hom.: 39994 Cov.: 33 AF XY: 0.726 AC XY: 53990AN XY: 74360
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at