22-38984140-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000333467.4(APOBEC3B):āc.83A>Gā(p.Tyr28Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000101 in 1,591,310 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
ENST00000333467.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
APOBEC3B | NM_004900.5 | c.83A>G | p.Tyr28Cys | missense_variant | 2/8 | ENST00000333467.4 | NP_004891.5 | |
APOBEC3B | NM_001270411.2 | c.83A>G | p.Tyr28Cys | missense_variant | 2/8 | NP_001257340.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
APOBEC3B | ENST00000333467.4 | c.83A>G | p.Tyr28Cys | missense_variant | 2/8 | 1 | NM_004900.5 | ENSP00000327459 | P2 | |
APOBEC3B | ENST00000407298.7 | c.83A>G | p.Tyr28Cys | missense_variant | 2/8 | 1 | ENSP00000385068 | |||
APOBEC3B | ENST00000335760.9 | c.83A>G | p.Tyr28Cys | missense_variant, NMD_transcript_variant | 2/7 | 1 | ENSP00000338897 | |||
APOBEC3B | ENST00000402182.7 | c.83A>G | p.Tyr28Cys | missense_variant | 2/7 | 2 | ENSP00000385060 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0000471 AC: 7AN: 148584Hom.: 1 Cov.: 31
GnomAD3 exomes AF: 0.0000165 AC: 4AN: 242876Hom.: 0 AF XY: 0.0000152 AC XY: 2AN XY: 131844
GnomAD4 exome AF: 0.00000624 AC: 9AN: 1442726Hom.: 0 Cov.: 31 AF XY: 0.00000418 AC XY: 3AN XY: 717876
GnomAD4 genome AF: 0.0000471 AC: 7AN: 148584Hom.: 1 Cov.: 31 AF XY: 0.0000277 AC XY: 2AN XY: 72252
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 29, 2023 | The c.83A>G (p.Y28C) alteration is located in exon 2 (coding exon 2) of the APOBEC3B gene. This alteration results from a A to G substitution at nucleotide position 83, causing the tyrosine (Y) at amino acid position 28 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at