chr8-100409570-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000664475.1(ENSG00000253824):n.120-27799A>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 0.3 in 152,090 control chromosomes in the GnomAD database, including 12,802 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000664475.1 | n.120-27799A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000519844.2 | n.152+1165A>G | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000654832.1 | n.180+4795A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000657736.1 | n.63+4795A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.299 AC: 45495AN: 151972Hom.: 12760 Cov.: 32
GnomAD4 genome AF: 0.300 AC: 45591AN: 152090Hom.: 12802 Cov.: 32 AF XY: 0.294 AC XY: 21849AN XY: 74344
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at