rs9387478
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000467125.1(ENSG00000282218):c.547+101837G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.597 in 152,044 control chromosomes in the GnomAD database, including 29,122 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
ENST00000467125.1 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 |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000282218 | ENST00000467125.1 | c.547+101837G>T | intron_variant | Intron 4 of 6 | 2 | ENSP00000487717.1 | ||||
DCBLD1 | ENST00000525483.5 | n.81+11120C>A | intron_variant | Intron 1 of 3 | 4 | |||||
DCBLD1 | ENST00000528138.5 | n.191+852C>A | intron_variant | Intron 2 of 4 | 4 | |||||
DCBLD1 | ENST00000533950.1 | n.64+11120C>A | intron_variant | Intron 1 of 3 | 5 |
Frequencies
GnomAD3 genomes AF: 0.596 AC: 90595AN: 151926Hom.: 29075 Cov.: 32 show subpopulations
GnomAD4 genome AF: 0.597 AC: 90707AN: 152044Hom.: 29122 Cov.: 32 AF XY: 0.599 AC XY: 44513AN XY: 74294 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at