chr2-241191204-A-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001370694.2(ANO7):āc.119A>Cā(p.Gln40Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000266 in 1,613,792 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001370694.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.119A>C | p.Gln40Pro | missense_variant | 3/25 | ENST00000674324.2 | NP_001357623.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANO7 | ENST00000674324.2 | c.119A>C | p.Gln40Pro | missense_variant | 3/25 | NM_001370694.2 | ENSP00000501393 | A2 | ||
ANO7 | ENST00000274979.12 | c.281A>C | p.Gln94Pro | missense_variant | 3/25 | 1 | ENSP00000274979 | P2 | ||
ANO7 | ENST00000402530.8 | c.119A>C | p.Gln40Pro | missense_variant | 3/4 | 1 | ENSP00000383985 | |||
ANO7 | ENST00000402430.8 | c.119A>C | p.Gln40Pro | missense_variant | 3/22 | 5 | ENSP00000385418 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152198Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251206Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135810
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1461594Hom.: 0 Cov.: 32 AF XY: 0.0000193 AC XY: 14AN XY: 727138
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152198Hom.: 0 Cov.: 33 AF XY: 0.000108 AC XY: 8AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 26, 2023 | The c.281A>C (p.Q94P) alteration is located in exon 3 (coding exon 3) of the ANO7 gene. This alteration results from a A to C substitution at nucleotide position 281, causing the glutamine (Q) at amino acid position 94 to be replaced by a proline (P). 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