rs193921040
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001290208.3(ZNF717):c.1228C>G(p.Leu410Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0307 in 1,538,504 control chromosomes in the GnomAD database, including 326 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
NM_001290208.3 missense
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 |
---|---|---|---|---|---|---|---|
ZNF717 | NM_001290208.3 | c.1228C>G | p.Leu410Val | missense_variant | 5/5 | ENST00000652011.2 | |
MIR4273 | NR_036235.1 | downstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF717 | ENST00000652011.2 | c.1228C>G | p.Leu410Val | missense_variant | 5/5 | NM_001290208.3 | P1 | ||
LINC00960 | ENST00000668145.1 | n.471-2198G>C | intron_variant, non_coding_transcript_variant | ||||||
MIR4273 | ENST00000582824.1 | downstream_gene_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0341 AC: 5175AN: 151752Hom.: 41 Cov.: 48
GnomAD3 exomes AF: 0.0000358 AC: 1AN: 27922Hom.: 0 AF XY: 0.0000702 AC XY: 1AN XY: 14238
GnomAD4 exome AF: 0.0304 AC: 42103AN: 1386634Hom.: 286 Cov.: 75 AF XY: 0.0313 AC XY: 21395AN XY: 683928
GnomAD4 genome ? AF: 0.0341 AC: 5174AN: 151870Hom.: 40 Cov.: 48 AF XY: 0.0335 AC XY: 2484AN XY: 74252
ClinVar
Submissions by phenotype
Malignant tumor of prostate Uncertain:1
Uncertain significance, no assertion criteria provided | literature only | Science for Life laboratory, Karolinska Institutet | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at