rs3745178
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000355147.9(ZNF160):c.-186T>C variant causes a splice region, 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.349 in 151,442 control chromosomes in the GnomAD database, including 9,520 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000355147.9 splice_region, 5_prime_UTR
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 |
---|---|---|---|---|---|---|---|
ZNF160 | NM_001322131.2 | c.-186T>C | 5_prime_UTR_variant | 2/6 | ENST00000683776.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF160 | ENST00000683776.1 | c.-186T>C | 5_prime_UTR_variant | 2/6 | NM_001322131.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.349 AC: 52843AN: 151282Hom.: 9511 Cov.: 30
GnomAD4 exome AF: 0.227 AC: 10AN: 44Hom.: 2 Cov.: 0 AF XY: 0.281 AC XY: 9AN XY: 32
GnomAD4 genome ? AF: 0.349 AC: 52868AN: 151398Hom.: 9518 Cov.: 30 AF XY: 0.344 AC XY: 25474AN XY: 73958
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at