rs746759188
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_024824.5(ZC3H14):c.1868+3_1868+64delGAGTACCATCCCCCCATCTCACCCTGCAAGTGAGTACCATCCCCCCATCTCACCCTGCAAGT variant causes a splice region, intron change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,610,838 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_024824.5 splice_region, 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZC3H14 | NM_024824.5 | c.1868+3_1868+64delGAGTACCATCCCCCCATCTCACCCTGCAAGTGAGTACCATCCCCCCATCTCACCCTGCAAGT | splice_region_variant, intron_variant | ENST00000251038.10 | NP_079100.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZC3H14 | ENST00000251038.10 | c.1868+3_1868+64delGAGTACCATCCCCCCATCTCACCCTGCAAGTGAGTACCATCCCCCCATCTCACCCTGCAAGT | splice_region_variant, intron_variant | 1 | NM_024824.5 | ENSP00000251038.5 |
Frequencies
GnomAD3 genomes AF: 0.00000665 AC: 1AN: 150368Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460352Hom.: 0 AF XY: 0.00000275 AC XY: 2AN XY: 726468
GnomAD4 genome AF: 0.00000665 AC: 1AN: 150486Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 73532
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at