rs10233867
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000712.4(BLVRA):c.-21-3468A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.17 in 609,330 control chromosomes in the GnomAD database, including 10,114 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 0.14 ( 2157 hom., cov: 32)
Exomes 𝑓: 0.18 ( 7957 hom. )
Consequence
BLVRA
NM_000712.4 intron
NM_000712.4 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.193
Genes affected
BLVRA (HGNC:1062): (biliverdin reductase A) The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]
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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=-0.73).
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.211 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BLVRA | NM_000712.4 | c.-21-3468A>G | intron_variant | ENST00000265523.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BLVRA | ENST00000265523.9 | c.-21-3468A>G | intron_variant | 1 | NM_000712.4 | P1 | |||
BLVRA | ENST00000402924.5 | c.-21-3468A>G | intron_variant | 2 | P1 | ||||
BLVRA | ENST00000424330.1 | c.-22+3365A>G | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.145 AC: 22052AN: 152056Hom.: 2157 Cov.: 32
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GnomAD4 exome AF: 0.178 AC: 81336AN: 457156Hom.: 7957 AF XY: 0.178 AC XY: 44935AN XY: 252672
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GnomAD4 genome ? AF: 0.145 AC: 22043AN: 152174Hom.: 2157 Cov.: 32 AF XY: 0.142 AC XY: 10535AN XY: 74376
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ClinVar
Not reported inComputational scores
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Name
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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