15-34038886-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_020371.3(AVEN):c.161G>T(p.Gly54Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000263 in 1,139,598 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020371.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000672 AC: 1AN: 148822Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000202 AC: 2AN: 990776Hom.: 0 Cov.: 29 AF XY: 0.00000213 AC XY: 1AN XY: 470058
GnomAD4 genome AF: 0.00000672 AC: 1AN: 148822Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 1AN XY: 72522
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.161G>T (p.G54V) alteration is located in exon 1 (coding exon 1) of the AVEN gene. This alteration results from a G to T substitution at nucleotide position 161, causing the glycine (G) at amino acid position 54 to be replaced by a valine (V). 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