15-29053917-C-T
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBS1BS2
The NM_001353788.2(APBA2):c.33C>T(p.Ser11Ser) variant causes a synonymous change. The variant allele was found at a frequency of 0.00119 in 1,612,646 control chromosomes in the GnomAD database, including 22 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001353788.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
APBA2 | NM_001353788.2 | c.33C>T | p.Ser11Ser | synonymous_variant | Exon 4 of 15 | ENST00000683413.1 | NP_001340717.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00667 AC: 1013AN: 151874Hom.: 14 Cov.: 32
GnomAD3 exomes AF: 0.00166 AC: 415AN: 250658Hom.: 6 AF XY: 0.00138 AC XY: 187AN XY: 135544
GnomAD4 exome AF: 0.000620 AC: 906AN: 1460654Hom.: 7 Cov.: 32 AF XY: 0.000567 AC XY: 412AN XY: 726368
GnomAD4 genome AF: 0.00670 AC: 1019AN: 151992Hom.: 15 Cov.: 32 AF XY: 0.00645 AC XY: 479AN XY: 74308
ClinVar
Submissions by phenotype
not provided Benign:2
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APBA2-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at