rs2304824
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_015162.5(ACSBG1):āc.1897A>Gā(p.Met633Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.5 in 1,613,758 control chromosomes in the GnomAD database, including 204,881 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M633T) has been classified as Uncertain significance.
Frequency
Consequence
NM_015162.5 missense
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 | UniProt |
---|---|---|---|---|---|---|---|
ACSBG1 | NM_015162.5 | c.1897A>G | p.Met633Val | missense_variant | 13/14 | ENST00000258873.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACSBG1 | ENST00000258873.9 | c.1897A>G | p.Met633Val | missense_variant | 13/14 | 1 | NM_015162.5 | P1 | |
ACSBG1 | ENST00000560817.5 | c.1171A>G | p.Met391Val | missense_variant | 9/10 | 5 | |||
ACSBG1 | ENST00000560183.1 | n.483A>G | non_coding_transcript_exon_variant | 2/2 | 2 | ||||
ACSBG1 | ENST00000560124.5 | c.*1209A>G | 3_prime_UTR_variant, NMD_transcript_variant | 9/10 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.543 AC: 82524AN: 151910Hom.: 23356 Cov.: 32
GnomAD3 exomes AF: 0.494 AC: 123878AN: 251018Hom.: 31509 AF XY: 0.500 AC XY: 67780AN XY: 135662
GnomAD4 exome AF: 0.495 AC: 723984AN: 1461732Hom.: 181507 Cov.: 55 AF XY: 0.498 AC XY: 361939AN XY: 727160
GnomAD4 genome ? AF: 0.543 AC: 82585AN: 152026Hom.: 23374 Cov.: 32 AF XY: 0.540 AC XY: 40093AN XY: 74308
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at