12-8605227-T-G
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2PM5PP3_Strong
The NM_020661.4(AICDA):āc.415A>Cā(p.Met139Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,726 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M139T) has been classified as Likely pathogenic.
Frequency
Consequence
NM_020661.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AICDA | NM_020661.4 | c.415A>C | p.Met139Leu | missense_variant | Exon 3 of 5 | ENST00000229335.11 | NP_065712.1 | |
AICDA | NM_001330343.2 | c.415A>C | p.Met139Leu | missense_variant | Exon 3 of 5 | NP_001317272.1 | ||
AICDA | NM_001410970.1 | c.415A>C | p.Met139Leu | missense_variant | Exon 3 of 4 | NP_001397899.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461726Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727184
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.