7-32559103-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_015060.3(AVL9):āc.854A>Gā(p.His285Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000279 in 1,613,970 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_015060.3 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 |
---|---|---|---|---|---|---|---|---|
AVL9 | NM_015060.3 | c.854A>G | p.His285Arg | missense_variant | 10/16 | ENST00000318709.9 | NP_055875.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AVL9 | ENST00000318709.9 | c.854A>G | p.His285Arg | missense_variant | 10/16 | 2 | NM_015060.3 | ENSP00000315568.4 | ||
AVL9 | ENST00000409301.5 | c.854A>G | p.His285Arg | missense_variant | 10/15 | 5 | ENSP00000387011.1 | |||
AVL9 | ENST00000446718.1 | c.647A>G | p.His216Arg | missense_variant | 9/13 | 5 | ENSP00000395134.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152242Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 250660Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135490
GnomAD4 exome AF: 0.0000294 AC: 43AN: 1461728Hom.: 0 Cov.: 33 AF XY: 0.0000261 AC XY: 19AN XY: 727150
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152242Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74376
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 29, 2024 | The c.854A>G (p.H285R) alteration is located in exon 10 (coding exon 10) of the AVL9 gene. This alteration results from a A to G substitution at nucleotide position 854, causing the histidine (H) at amino acid position 285 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