rs7798431
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000812174.1(ENSG00000286725):n.297+27734C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.245 in 152,050 control chromosomes in the GnomAD database, including 4,855 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
ENST00000812174.1 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000286725 | ENST00000812174.1 | n.297+27734C>T | intron_variant | Intron 2 of 4 | ||||||
ENSG00000286725 | ENST00000812175.1 | n.280+27734C>T | intron_variant | Intron 2 of 5 | ||||||
ENSG00000286725 | ENST00000812176.1 | n.297+27734C>T | intron_variant | Intron 2 of 4 |
Frequencies
GnomAD3 genomes AF: 0.245 AC: 37269AN: 151932Hom.: 4853 Cov.: 32 show subpopulations
GnomAD4 genome AF: 0.245 AC: 37305AN: 152050Hom.: 4855 Cov.: 32 AF XY: 0.253 AC XY: 18788AN XY: 74346 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at