chr3-28324098-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_022461.5(AZI2):āc.1123C>Gā(p.Leu375Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000087 in 1,609,990 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_022461.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AZI2 | NM_022461.5 | c.1123C>G | p.Leu375Val | missense_variant | 8/8 | ENST00000479665.6 | |
CMC1 | NM_182523.2 | c.*4469G>C | 3_prime_UTR_variant | 4/4 | ENST00000466830.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AZI2 | ENST00000479665.6 | c.1123C>G | p.Leu375Val | missense_variant | 8/8 | 2 | NM_022461.5 | P1 | |
CMC1 | ENST00000466830.6 | c.*4469G>C | 3_prime_UTR_variant | 4/4 | 1 | NM_182523.2 | P1 | ||
AZI2 | ENST00000295748.7 | n.1382C>G | non_coding_transcript_exon_variant | 9/9 | 1 | ||||
AZI2 | ENST00000429369.5 | c.158+2734C>G | intron_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151026Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000320 AC: 8AN: 249954Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135112
GnomAD4 exome AF: 0.00000823 AC: 12AN: 1458964Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 725768
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151026Hom.: 0 Cov.: 31 AF XY: 0.0000136 AC XY: 1AN XY: 73716
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at