chr12-95999809-C-T
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000551849.2(ENSG00000257878):n.172-282C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.167 in 152,196 control chromosomes in the GnomAD database, including 2,788 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
Consequence
ENST00000551849.2 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC102723340 | XR_001749275.3 | n.150-282C>T | intron_variant | Intron 1 of 2 | ||||
LOC102723340 | XR_002957424.2 | n.149+3179C>T | intron_variant | Intron 1 of 1 | ||||
LOC102723340 | XR_945236.4 | n.571-282C>T | intron_variant | Intron 2 of 3 | ||||
LOC102723340 | XR_945237.4 | n.247-282C>T | intron_variant | Intron 2 of 3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000257878 | ENST00000551849.2 | n.172-282C>T | intron_variant | Intron 1 of 3 | 3 | |||||
ENSG00000257878 | ENST00000684881.3 | n.176+3179C>T | intron_variant | Intron 1 of 2 | ||||||
ENSG00000257878 | ENST00000689841.2 | n.265-282C>T | intron_variant | Intron 2 of 4 |
Frequencies
GnomAD3 genomes AF: 0.167 AC: 25382AN: 152078Hom.: 2788 Cov.: 32 show subpopulations
GnomAD4 genome AF: 0.167 AC: 25379AN: 152196Hom.: 2788 Cov.: 32 AF XY: 0.160 AC XY: 11938AN XY: 74390 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at