chr19-37412755-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_152484.3(ZNF569):c.1903G>A(p.Asp635Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000052 in 1,613,974 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152484.3 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF569 | NM_152484.3 | c.1903G>A | p.Asp635Asn | missense_variant | 6/6 | ENST00000316950.11 | NP_689697.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF569 | ENST00000316950.11 | c.1903G>A | p.Asp635Asn | missense_variant | 6/6 | 1 | NM_152484.3 | ENSP00000325018 | P2 | |
ZNF569 | ENST00000392149.6 | c.1903G>A | p.Asp635Asn | missense_variant | 5/5 | 1 | ENSP00000375992 | P2 | ||
ZNF569 | ENST00000392150.2 | c.1426G>A | p.Asp476Asn | missense_variant | 2/2 | 1 | ENSP00000375993 | |||
ZNF569 | ENST00000448051.7 | c.1975G>A | p.Asp659Asn | missense_variant | 9/9 | 2 | ENSP00000466221 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152112Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251200Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135764
GnomAD4 exome AF: 0.0000527 AC: 77AN: 1461744Hom.: 0 Cov.: 32 AF XY: 0.0000481 AC XY: 35AN XY: 727166
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152230Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74418
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 30, 2024 | The c.1903G>A (p.D635N) alteration is located in exon 6 (coding exon 4) of the ZNF569 gene. This alteration results from a G to A substitution at nucleotide position 1903, causing the aspartic acid (D) at amino acid position 635 to be replaced by an asparagine (N). 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