ENST00000676649.1:n.447-18054T>C
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000676649.1(ENSG00000288659):n.447-18054T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.613 in 151,930 control chromosomes in the GnomAD database, including 29,571 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
ENST00000676649.1 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 |
---|---|---|---|---|---|---|---|---|
LOC101927145 | XR_938809.3 | n.372-18054T>C | intron_variant | Intron 2 of 2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000288659 | ENST00000676649.1 | n.447-18054T>C | intron_variant | Intron 3 of 3 | ||||||
ENSG00000288659 | ENST00000687436.3 | n.416-18054T>C | intron_variant | Intron 2 of 2 | ||||||
ENSG00000288659 | ENST00000702460.2 | n.287-12372T>C | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes AF: 0.613 AC: 93055AN: 151812Hom.: 29560 Cov.: 31 show subpopulations
GnomAD4 genome AF: 0.613 AC: 93094AN: 151930Hom.: 29571 Cov.: 31 AF XY: 0.613 AC XY: 45530AN XY: 74280 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at