2-241190148-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001370694.2(ANO7):c.85G>A(p.Gly29Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000369 in 1,570,698 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001370694.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANO7 | NM_001370694.2 | c.85G>A | p.Gly29Arg | missense_variant | 2/25 | ENST00000674324.2 | NP_001357623.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANO7 | ENST00000674324.2 | c.85G>A | p.Gly29Arg | missense_variant | 2/25 | NM_001370694.2 | ENSP00000501393 | A2 | ||
ANO7 | ENST00000274979.12 | c.247G>A | p.Gly83Arg | missense_variant | 2/25 | 1 | ENSP00000274979 | P2 | ||
ANO7 | ENST00000402530.8 | c.85G>A | p.Gly29Arg | missense_variant | 2/4 | 1 | ENSP00000383985 | |||
ANO7 | ENST00000402430.8 | c.85G>A | p.Gly29Arg | missense_variant | 2/22 | 5 | ENSP00000385418 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152138Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000613 AC: 11AN: 179464Hom.: 0 AF XY: 0.000115 AC XY: 11AN XY: 95740
GnomAD4 exome AF: 0.0000381 AC: 54AN: 1418442Hom.: 0 Cov.: 31 AF XY: 0.0000527 AC XY: 37AN XY: 701546
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152256Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74444
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 10, 2021 | The c.247G>A (p.G83R) alteration is located in exon 2 (coding exon 2) of the ANO7 gene. This alteration results from a G to A substitution at nucleotide position 247, causing the glycine (G) at amino acid position 83 to be replaced by an arginine (R). 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