chr2-241191245-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001370694.2(ANO7):c.160C>T(p.Arg54Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000164 in 1,613,688 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 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 Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANO7 | NM_001370694.2 | c.160C>T | p.Arg54Trp | 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.160C>T | p.Arg54Trp | missense_variant | 3/25 | NM_001370694.2 | ENSP00000501393 | A2 | ||
ANO7 | ENST00000274979.12 | c.322C>T | p.Arg108Trp | missense_variant | 3/25 | 1 | ENSP00000274979 | P2 | ||
ANO7 | ENST00000402530.8 | c.160C>T | p.Arg54Trp | missense_variant | 3/4 | 1 | ENSP00000383985 | |||
ANO7 | ENST00000402430.8 | c.160C>T | p.Arg54Trp | missense_variant | 3/22 | 5 | ENSP00000385418 |
Frequencies
GnomAD3 genomes AF: 0.000145 AC: 22AN: 152208Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000956 AC: 24AN: 250988Hom.: 0 AF XY: 0.0000958 AC XY: 13AN XY: 135740
GnomAD4 exome AF: 0.000166 AC: 243AN: 1461480Hom.: 0 Cov.: 32 AF XY: 0.000162 AC XY: 118AN XY: 727078
GnomAD4 genome AF: 0.000145 AC: 22AN: 152208Hom.: 0 Cov.: 33 AF XY: 0.000148 AC XY: 11AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 21, 2021 | The c.322C>T (p.R108W) alteration is located in exon 3 (coding exon 3) of the ANO7 gene. This alteration results from a C to T substitution at nucleotide position 322, causing the arginine (R) at amino acid position 108 to be replaced by a tryptophan (W). 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