rs4802987
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001161499.2(ZNF611):c.-221-15A>G variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.277 in 152,004 control chromosomes in the GnomAD database, including 5,910 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001161499.2 splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF611 | NM_001161499.2 | c.-221-15A>G | splice_polypyrimidine_tract_variant, intron_variant | ENST00000652185.1 | |||
ZNF611 | NM_001161500.2 | c.-121-1189A>G | intron_variant | ||||
ZNF611 | NM_001161501.1 | c.-301-15A>G | splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF611 | ENST00000652185.1 | c.-221-15A>G | splice_polypyrimidine_tract_variant, intron_variant | NM_001161499.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.277 AC: 42010AN: 151886Hom.: 5901 Cov.: 30
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 4Hom.: 0 Cov.: 0AC XY: 0AN XY: 0
GnomAD4 genome ? AF: 0.277 AC: 42031AN: 152004Hom.: 5910 Cov.: 30 AF XY: 0.271 AC XY: 20169AN XY: 74288
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at