chr1-19311883-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003689.4(AKR7A2):āc.242A>Gā(p.Gln81Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,458,450 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_003689.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AKR7A2 | NM_003689.4 | c.242A>G | p.Gln81Arg | missense_variant | 1/7 | ENST00000235835.8 | |
AKR7A2 | NM_001320979.1 | c.242A>G | p.Gln81Arg | missense_variant | 1/6 | ||
AKR7A2 | XM_047433095.1 | c.242A>G | p.Gln81Arg | missense_variant | 1/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKR7A2 | ENST00000235835.8 | c.242A>G | p.Gln81Arg | missense_variant | 1/7 | 1 | NM_003689.4 | P1 | |
AKR7A2 | ENST00000330072.9 | c.212A>G | p.Gln71Arg | missense_variant | 1/6 | 2 | |||
AKR7A2 | ENST00000489286.5 | c.26A>G | p.Gln9Arg | missense_variant | 1/5 | 5 | |||
AKR7A2 | ENST00000492217.1 | n.221A>G | non_coding_transcript_exon_variant | 1/3 | 2 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD3 exomes AF: 0.00000411 AC: 1AN: 243524Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133422
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1458450Hom.: 0 Cov.: 38 AF XY: 0.00 AC XY: 0AN XY: 725586
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at