rs41282492
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_201653.4(CHIA):āc.133A>Gā(p.Asn45Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.119 in 1,612,840 control chromosomes in the GnomAD database, including 12,455 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.
Frequency
Consequence
NM_201653.4 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 |
---|---|---|---|---|---|---|---|
CHIA | NM_201653.4 | c.133A>G | p.Asn45Asp | missense_variant | 4/12 | ENST00000369740.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CHIA | ENST00000369740.6 | c.133A>G | p.Asn45Asp | missense_variant | 4/12 | 1 | NM_201653.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.133 AC: 20282AN: 151996Hom.: 1589 Cov.: 31
GnomAD3 exomes AF: 0.105 AC: 26253AN: 249458Hom.: 1607 AF XY: 0.107 AC XY: 14515AN XY: 135340
GnomAD4 exome AF: 0.118 AC: 171794AN: 1460726Hom.: 10869 Cov.: 33 AF XY: 0.118 AC XY: 85669AN XY: 726748
GnomAD4 genome ? AF: 0.133 AC: 20291AN: 152114Hom.: 1586 Cov.: 31 AF XY: 0.129 AC XY: 9568AN XY: 74366
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at