chr12-100942466-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PM2PP5_ModerateBP4
The NM_001286615.2(ANO4):c.387C>G(p.Asn129Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,770 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 Pathogenic (★).
Frequency
Consequence
NM_001286615.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANO4 | ENST00000392977.8 | c.387C>G | p.Asn129Lys | missense_variant | Exon 5 of 28 | 2 | NM_001286615.2 | ENSP00000376703.3 | ||
ANO4 | ENST00000644049.1 | c.885C>G | p.Asn295Lys | missense_variant | Exon 7 of 30 | ENSP00000494481.1 | ||||
ANO4 | ENST00000392979.7 | c.282C>G | p.Asn94Lys | missense_variant | Exon 4 of 27 | 2 | ENSP00000376705.3 | |||
ANO4 | ENST00000549155.6 | n.885C>G | non_coding_transcript_exon_variant | Exon 7 of 11 | 2 | ENSP00000449116.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461770Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727202
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Early infantile epileptic encephalopathy with suppression bursts Pathogenic:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.