16-82560778-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000650164.1(ENSG00000261285):n.584+14012A>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 0.433 in 152,104 control chromosomes in the GnomAD database, including 16,905 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 |
---|---|---|---|---|---|---|---|
LOC101928392 | XR_243484.3 | n.555+14012A>G | intron_variant, non_coding_transcript_variant | ||||
LOC101928392 | XR_933799.2 | n.613-6530A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000650164.1 | n.584+14012A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000565374.2 | n.613-6530A>G | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.433 AC: 65873AN: 151986Hom.: 16912 Cov.: 33
GnomAD4 genome ? AF: 0.433 AC: 65850AN: 152104Hom.: 16905 Cov.: 33 AF XY: 0.432 AC XY: 32131AN XY: 74346
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at