chr10-97679784-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_021732.3(AVPI1):āc.122C>Gā(p.Ala41Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.423 in 1,613,232 control chromosomes in the GnomAD database, including 148,052 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_021732.3 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 |
---|---|---|---|---|---|---|---|
AVPI1 | NM_021732.3 | c.122C>G | p.Ala41Gly | missense_variant | 2/3 | ENST00000370626.4 | |
AVPI1 | XM_017016494.2 | c.122C>G | p.Ala41Gly | missense_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AVPI1 | ENST00000370626.4 | c.122C>G | p.Ala41Gly | missense_variant | 2/3 | 1 | NM_021732.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.474 AC: 71980AN: 151940Hom.: 18187 Cov.: 32
GnomAD3 exomes AF: 0.430 AC: 107343AN: 249424Hom.: 23898 AF XY: 0.429 AC XY: 57885AN XY: 135076
GnomAD4 exome AF: 0.418 AC: 610495AN: 1461174Hom.: 129818 Cov.: 73 AF XY: 0.420 AC XY: 304937AN XY: 726884
GnomAD4 genome AF: 0.474 AC: 72092AN: 152058Hom.: 18234 Cov.: 32 AF XY: 0.472 AC XY: 35056AN XY: 74348
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at