19-37698548-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_032689.5(ZNF607):āc.1583G>Cā(p.Ser528Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000227 in 1,611,810 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_032689.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF607 | NM_032689.5 | c.1583G>C | p.Ser528Thr | missense_variant | 5/5 | ENST00000355202.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF607 | ENST00000355202.9 | c.1583G>C | p.Ser528Thr | missense_variant | 5/5 | 2 | NM_032689.5 | ||
ZNF607 | ENST00000395835.7 | c.1580G>C | p.Ser527Thr | missense_variant | 5/5 | 2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000230 AC: 35AN: 152028Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000123 AC: 31AN: 251354Hom.: 0 AF XY: 0.000162 AC XY: 22AN XY: 135850
GnomAD4 exome AF: 0.000227 AC: 331AN: 1459782Hom.: 0 Cov.: 71 AF XY: 0.000207 AC XY: 150AN XY: 726178
GnomAD4 genome AF: 0.000230 AC: 35AN: 152028Hom.: 0 Cov.: 32 AF XY: 0.000189 AC XY: 14AN XY: 74264
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 06, 2021 | The c.1583G>C (p.S528T) alteration is located in exon 5 (coding exon 4) of the ZNF607 gene. This alteration results from a G to C substitution at nucleotide position 1583, causing the serine (S) at amino acid position 528 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at