chr1-143544453-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000449715.1(ENSG00000203825):n.513+79T>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 0.772 in 655,426 control chromosomes in the GnomAD database, including 204,779 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000449715.1 | n.513+79T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.775 AC: 113457AN: 146344Hom.: 46218 Cov.: 28
GnomAD4 exome AF: 0.770 AC: 392131AN: 508964Hom.: 158520 AF XY: 0.762 AC XY: 208853AN XY: 274248
GnomAD4 genome ? AF: 0.775 AC: 113550AN: 146462Hom.: 46259 Cov.: 28 AF XY: 0.773 AC XY: 55133AN XY: 71364
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at