19-57978331-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001348022.3(ZNF606):āc.2349G>Cā(p.Gln783His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000703 in 1,423,018 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001348022.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF606 | NM_001348022.3 | c.2349G>C | p.Gln783His | missense_variant | 7/7 | ENST00000551380.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF606 | ENST00000551380.7 | c.2349G>C | p.Gln783His | missense_variant | 7/7 | 5 | NM_001348022.3 | P1 | |
ZNF606 | ENST00000341164.9 | c.2349G>C | p.Gln783His | missense_variant | 7/7 | 1 | P1 | ||
ZNF606 | ENST00000550599.6 | c.*2083G>C | 3_prime_UTR_variant, NMD_transcript_variant | 6/6 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.03e-7 AC: 1AN: 1423018Hom.: 0 Cov.: 30 AF XY: 0.00000142 AC XY: 1AN XY: 703028
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.