NM_001641.4:c.190A>G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001641.4(APEX1):āc.190A>Gā(p.Ile64Val) variant causes a missense change. The variant allele was found at a frequency of 0.0023 in 1,614,166 control chromosomes in the GnomAD database, including 70 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_001641.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
APEX1 | NM_001641.4 | c.190A>G | p.Ile64Val | missense_variant | Exon 3 of 5 | ENST00000216714.8 | NP_001632.2 | |
APEX1 | NM_001244249.2 | c.190A>G | p.Ile64Val | missense_variant | Exon 3 of 5 | NP_001231178.1 | ||
APEX1 | NM_080648.3 | c.190A>G | p.Ile64Val | missense_variant | Exon 3 of 5 | NP_542379.1 | ||
APEX1 | NM_080649.3 | c.190A>G | p.Ile64Val | missense_variant | Exon 3 of 5 | NP_542380.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00275 AC: 418AN: 152164Hom.: 7 Cov.: 32
GnomAD3 exomes AF: 0.00741 AC: 1863AN: 251488Hom.: 39 AF XY: 0.00633 AC XY: 860AN XY: 135922
GnomAD4 exome AF: 0.00226 AC: 3298AN: 1461884Hom.: 63 Cov.: 31 AF XY: 0.00210 AC XY: 1526AN XY: 727240
GnomAD4 genome AF: 0.00274 AC: 417AN: 152282Hom.: 7 Cov.: 32 AF XY: 0.00301 AC XY: 224AN XY: 74448
ClinVar
Submissions by phenotype
not provided Benign:3
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at