chr4-40890404-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004307.2(APBB2):c.1489G>A(p.Val497Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000428 in 1,613,752 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004307.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000522 AC: 13AN: 249252Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135262
GnomAD4 exome AF: 0.0000404 AC: 59AN: 1461546Hom.: 0 Cov.: 30 AF XY: 0.0000316 AC XY: 23AN XY: 727066
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152206Hom.: 0 Cov.: 32 AF XY: 0.0000941 AC XY: 7AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1489G>A (p.V497I) alteration is located in exon 12 (coding exon 8) of the APBB2 gene. This alteration results from a G to A substitution at nucleotide position 1489, causing the valine (V) at amino acid position 497 to be replaced by an isoleucine (I). 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