rs142246587
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021994.3(ZNF277):c.-1A>C variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000044 in 1,613,176 control chromosomes in the GnomAD database, including 1 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_021994.3 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF277 | NM_021994.3 | c.-1A>C | 5_prime_UTR_variant | Exon 1 of 12 | ENST00000361822.8 | NP_068834.2 | ||
ZNF277 | XM_011515768.4 | c.-231A>C | 5_prime_UTR_variant | Exon 1 of 12 | XP_011514070.1 | |||
ZNF277 | XM_017011720.3 | c.-262A>C | 5_prime_UTR_variant | Exon 1 of 11 | XP_016867209.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152222Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000210 AC: 52AN: 248068Hom.: 1 AF XY: 0.000208 AC XY: 28AN XY: 134706
GnomAD4 exome AF: 0.0000370 AC: 54AN: 1460836Hom.: 1 Cov.: 31 AF XY: 0.0000330 AC XY: 24AN XY: 726738
GnomAD4 genome AF: 0.000112 AC: 17AN: 152340Hom.: 0 Cov.: 33 AF XY: 0.000107 AC XY: 8AN XY: 74492
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at