chr12-114098490-C-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000549266.5(ENSG00000257997):n.71-14851C>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 0.102 in 152,148 control chromosomes in the GnomAD database, including 1,049 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 |
---|---|---|---|---|---|---|---|
LOC105369995 | XR_945361.3 | n.1096-14851C>G | intron_variant, non_coding_transcript_variant | ||||
LOC105369995 | XR_945360.4 | n.1096-8820C>G | intron_variant, non_coding_transcript_variant | ||||
LOC105369995 | XR_945363.4 | n.1096-11931C>G | intron_variant, non_coding_transcript_variant | ||||
LOC105369995 | XR_945365.4 | n.1096-8820C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000549266.5 | n.71-14851C>G | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000546791.1 | n.63-8820C>G | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.102 AC: 15531AN: 152030Hom.: 1052 Cov.: 32
GnomAD4 genome AF: 0.102 AC: 15531AN: 152148Hom.: 1049 Cov.: 32 AF XY: 0.103 AC XY: 7692AN XY: 74384
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at