3-100753833-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001375547.2(ABI3BP):c.4946G>A(p.Ser1649Asn) variant causes a missense change. The variant allele was found at a frequency of 0.00000683 in 1,611,070 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ABI3BP | NM_001375547.2 | c.4946G>A | p.Ser1649Asn | missense_variant | Exon 65 of 68 | ENST00000471714.6 | NP_001362476.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152210Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000410 AC: 1AN: 244074Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 132186
GnomAD4 exome AF: 0.00000685 AC: 10AN: 1458860Hom.: 0 Cov.: 31 AF XY: 0.00000689 AC XY: 5AN XY: 725310
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2813G>A (p.S938N) alteration is located in exon 32 (coding exon 32) of the ABI3BP gene. This alteration results from a G to A substitution at nucleotide position 2813, causing the serine (S) at amino acid position 938 to be replaced by an asparagine (N). 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