11-26332285-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_031418.4(ANO3):c.10C>A(p.His4Asn) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,882 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. H4H) has been classified as Likely benign.
Frequency
Consequence
NM_031418.4 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 |
---|---|---|---|---|---|---|---|
ANO3 | NM_031418.4 | c.10C>A | p.His4Asn | missense_variant | 1/27 | ENST00000256737.8 | |
ANO3 | XM_047427399.1 | c.10C>A | p.His4Asn | missense_variant | 1/26 | ||
ANO3 | NM_001313726.2 | c.229+22566C>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANO3 | ENST00000256737.8 | c.10C>A | p.His4Asn | missense_variant | 1/27 | 1 | NM_031418.4 | P3 | |
ANO3 | ENST00000531646.1 | c.10C>A | p.His4Asn | missense_variant | 1/5 | 4 | |||
ANO3 | ENST00000525139.5 | c.-3+22566C>A | intron_variant | 5 | |||||
ANO3 | ENST00000672621.1 | c.229+22566C>A | intron_variant |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251486Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135914
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461882Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 727240
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 07, 2023 | The c.10C>A (p.H4N) alteration is located in exon 1 (coding exon 1) of the ANO3 gene. This alteration results from a C to A substitution at nucleotide position 10, causing the histidine (H) at amino acid position 4 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at