3-100770860-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001375547.2(ABI3BP):c.4624G>T(p.Gly1542Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000689 in 1,451,982 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_001375547.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ABI3BP | NM_001375547.2 | c.4624G>T | p.Gly1542Trp | missense_variant | Exon 62 of 68 | ENST00000471714.6 | NP_001362476.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000412 AC: 1AN: 242596Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 131626
GnomAD4 exome AF: 6.89e-7 AC: 1AN: 1451982Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 721724
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2491G>T (p.G831W) alteration is located in exon 29 (coding exon 29) of the ABI3BP gene. This alteration results from a G to T substitution at nucleotide position 2491, causing the glycine (G) at amino acid position 831 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