rs10644138
- chr2-223765159-CCATCATCATCAT-C
- chr2-223765159-CCATCATCATCAT-CCAT
- chr2-223765159-CCATCATCATCAT-CCATCAT
- chr2-223765159-CCATCATCATCAT-CCATCATCAT
- chr2-223765159-CCATCATCATCAT-CCATCATCATCATCAT
- chr2-223765159-CCATCATCATCAT-CCATCATCATCATCATCAT
- chr2-223765159-CCATCATCATCAT-CCATCATCATCATCATCATCAT
- chr2-223765159-CCATCATCATCAT-CCATCATCATCATCATCATCATCAT
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001039569.2(AP1S3):c.429+42_429+53delATGATGATGATG variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000709 in 1,409,486 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001039569.2 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AP1S3 | NM_001039569.2 | c.429+42_429+53delATGATGATGATG | intron_variant | Intron 4 of 4 | ENST00000396654.7 | NP_001034658.1 | ||
AP1S3 | XM_011510600.4 | c.292-6421_292-6410delATGATGATGATG | intron_variant | Intron 3 of 3 | XP_011508902.1 | |||
AP1S3 | NR_110905.2 | n.600+42_600+53delATGATGATGATG | intron_variant | Intron 5 of 5 | ||||
AP1S3 | NR_110906.2 | n.452+42_452+53delATGATGATGATG | intron_variant | Intron 3 of 3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AP1S3 | ENST00000396654.7 | c.429+42_429+53delATGATGATGATG | intron_variant | Intron 4 of 4 | 2 | NM_001039569.2 | ENSP00000379891.2 | |||
ENSG00000286239 | ENST00000650969.1 | n.*1393+42_*1393+53delATGATGATGATG | intron_variant | Intron 16 of 16 | ENSP00000498456.1 |
Frequencies
GnomAD3 genomes Cov.: 0
GnomAD4 exome AF: 7.09e-7 AC: 1AN: 1409486Hom.: 0 AF XY: 0.00000143 AC XY: 1AN XY: 700756
GnomAD4 genome Cov.: 0
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.