rs3815501
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001207067.2(BZW1):c.1228+94T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.795 in 1,473,268 control chromosomes in the GnomAD database, including 471,296 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
Genomes: 𝑓 0.78 ( 46618 hom., cov: 32)
Exomes 𝑓: 0.80 ( 424678 hom. )
Consequence
BZW1
NM_001207067.2 intron
NM_001207067.2 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.393
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.87).
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.824 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BZW1 | NM_001207067.2 | c.1228+94T>C | intron_variant | ENST00000409600.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BZW1 | ENST00000409600.6 | c.1228+94T>C | intron_variant | 1 | NM_001207067.2 | P1 | |||
BZW1 | ENST00000359893.4 | c.375+94T>C | intron_variant | 3 | |||||
BZW1 | ENST00000409226.5 | c.1240+94T>C | intron_variant | 2 | |||||
BZW1 | ENST00000452790.6 | c.1324+94T>C | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.778 AC: 118309AN: 152022Hom.: 46593 Cov.: 32
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GnomAD4 exome AF: 0.796 AC: 1052269AN: 1321128Hom.: 424678 AF XY: 0.792 AC XY: 518826AN XY: 655294
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GnomAD4 genome ? AF: 0.778 AC: 118379AN: 152140Hom.: 46618 Cov.: 32 AF XY: 0.768 AC XY: 57143AN XY: 74376
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at