NM_003664.5:c.3023_3025delCTG
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 1P and 16B. PM4_SupportingBP6_Very_StrongBA1
The NM_003664.5(AP3B1):c.3023_3025delCTG(p.Ala1008del) variant causes a disruptive inframe deletion change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00629 in 1,613,790 control chromosomes in the GnomAD database, including 528 homozygotes. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_003664.5 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AP3B1 | NM_003664.5 | c.3023_3025delCTG | p.Ala1008del | disruptive_inframe_deletion | Exon 26 of 27 | ENST00000255194.11 | NP_003655.3 | |
AP3B1 | NM_001271769.2 | c.2876_2878delCTG | p.Ala959del | disruptive_inframe_deletion | Exon 26 of 27 | NP_001258698.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0330 AC: 5017AN: 152124Hom.: 270 Cov.: 32
GnomAD3 exomes AF: 0.00887 AC: 2230AN: 251412Hom.: 113 AF XY: 0.00645 AC XY: 876AN XY: 135872
GnomAD4 exome AF: 0.00351 AC: 5125AN: 1461548Hom.: 258 AF XY: 0.00308 AC XY: 2240AN XY: 727076
GnomAD4 genome AF: 0.0330 AC: 5025AN: 152242Hom.: 270 Cov.: 32 AF XY: 0.0320 AC XY: 2384AN XY: 74444
ClinVar
Submissions by phenotype
Hermansky-Pudlak syndrome 2 Benign:2
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not specified Benign:1
p.Ala1008del in exon 26 of AP3B1: This variant is not expected to have clinical significance because it has been identified in 12.02% (1251/10404) of African ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs111935323). -
Hermansky-Pudlak syndrome Benign:1
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not provided Benign:1
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Autoinflammatory syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at