chr6-35765922-A-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000403727.1(ENSG00000220734):n.15A>C variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000559 in 429,182 control chromosomes in the GnomAD database, including 1 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
ENST00000403727.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
use as main transcript | n.35765922A>C | intergenic_region |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000220734 | ENST00000403727.1 | n.15A>C | non_coding_transcript_exon_variant | 1/2 | 6 |
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152048Hom.: 1 Cov.: 33
GnomAD4 exome AF: 0.0000433 AC: 12AN: 277016Hom.: 0 Cov.: 0 AF XY: 0.0000532 AC XY: 8AN XY: 150354
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152166Hom.: 1 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74366
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at