chr6-126499415-T-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000651326.1(ENSG00000293110):n.2290-26821A>C 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 0.759 in 151,878 control chromosomes in the GnomAD database, including 44,225 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000651326.1 | n.2290-26821A>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000650727.1 | n.3037-1890A>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000652383.1 | n.630+32248A>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000652545.1 | n.3347-1890A>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.759 AC: 115115AN: 151760Hom.: 44173 Cov.: 31
GnomAD4 genome AF: 0.759 AC: 115230AN: 151878Hom.: 44225 Cov.: 31 AF XY: 0.761 AC XY: 56461AN XY: 74236
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at