NM_001286615.2:c.977C>G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001286615.2(ANO4):c.977C>G(p.Ser326Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000248 in 1,612,680 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 Uncertain significance (★).
Frequency
Consequence
NM_001286615.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANO4 | ENST00000392977.8 | c.977C>G | p.Ser326Cys | missense_variant | Exon 11 of 28 | 2 | NM_001286615.2 | ENSP00000376703.3 | ||
ANO4 | ENST00000644049.1 | c.1475C>G | p.Ser492Cys | missense_variant | Exon 13 of 30 | ENSP00000494481.1 | ||||
ANO4 | ENST00000392979.7 | c.872C>G | p.Ser291Cys | missense_variant | Exon 10 of 27 | 2 | ENSP00000376705.3 | |||
ANO4 | ENST00000549234.1 | n.447C>G | non_coding_transcript_exon_variant | Exon 5 of 6 | 4 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152180Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460500Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726522
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152180Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.872C>G (p.S291C) alteration is located in exon 10 (coding exon 9) of the ANO4 gene. This alteration results from a C to G substitution at nucleotide position 872, causing the serine (S) at amino acid position 291 to be replaced by a cysteine (C). 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