rs60329053
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001025356.3(ANO6):āc.2674G>Cā(p.Val892Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00329 in 1,613,900 control chromosomes in the GnomAD database, including 155 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin ClinVar.
Frequency
Consequence
NM_001025356.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANO6 | NM_001025356.3 | c.2674G>C | p.Val892Leu | missense_variant | 20/20 | ENST00000320560.13 | |
LOC105369743 | XR_944886.3 | n.1353-31028C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANO6 | ENST00000320560.13 | c.2674G>C | p.Val892Leu | missense_variant | 20/20 | 1 | NM_001025356.3 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0181 AC: 2747AN: 152186Hom.: 79 Cov.: 32
GnomAD3 exomes AF: 0.00495 AC: 1240AN: 250602Hom.: 39 AF XY: 0.00319 AC XY: 432AN XY: 135434
GnomAD4 exome AF: 0.00175 AC: 2556AN: 1461596Hom.: 75 Cov.: 31 AF XY: 0.00137 AC XY: 995AN XY: 727098
GnomAD4 genome AF: 0.0181 AC: 2751AN: 152304Hom.: 80 Cov.: 32 AF XY: 0.0174 AC XY: 1295AN XY: 74472
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 18, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at