4-42067077-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_006345.4(SLC30A9):c.1145-8A>G variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000784 in 1,403,254 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006345.4 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC30A9 | NM_006345.4 | c.1145-8A>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000264451.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC30A9 | ENST00000264451.12 | c.1145-8A>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_006345.4 | P1 | |||
SLC30A9 | ENST00000513699.5 | c.*902-8A>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant, NMD_transcript_variant | 2 | |||||
SLC30A9 | ENST00000509683.5 | n.201-8A>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249662Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134916
GnomAD4 exome AF: 0.00000784 AC: 11AN: 1403254Hom.: 0 Cov.: 23 AF XY: 0.00000855 AC XY: 6AN XY: 701396
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | MVZ Medizinische Genetik Mainz | Dec 14, 2021 | PM2_SUP, PM3_SUP, PP3 (ACMG Version 3) - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at