chrX-37811476-T-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000378588.5(CYBB):c.*559T>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.208 in 119,218 control chromosomes in the GnomAD database, including 2,188 homozygotes. There are 6,999 hemizygotes in GnomAD. 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
ENST00000378588.5 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYBB | NM_000397.4 | c.*559T>G | 3_prime_UTR_variant | 13/13 | ENST00000378588.5 | NP_000388.2 | ||
CYBB | XM_047441855.1 | c.*559T>G | 3_prime_UTR_variant | 12/12 | XP_047297811.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYBB | ENST00000378588.5 | c.*559T>G | 3_prime_UTR_variant | 13/13 | 1 | NM_000397.4 | ENSP00000367851 | P1 | ||
CYBB | ENST00000696170.1 | c.*1781T>G | 3_prime_UTR_variant, NMD_transcript_variant | 12/12 | ENSP00000512461 |
Frequencies
GnomAD3 genomes AF: 0.212 AC: 23526AN: 110912Hom.: 2098 Cov.: 22 AF XY: 0.201 AC XY: 6657AN XY: 33164
GnomAD4 exome AF: 0.157 AC: 1298AN: 8256Hom.: 90 Cov.: 0 AF XY: 0.182 AC XY: 319AN XY: 1748
GnomAD4 genome AF: 0.212 AC: 23547AN: 110962Hom.: 2098 Cov.: 22 AF XY: 0.201 AC XY: 6680AN XY: 33224
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at