19-55642692-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_207115.2(ZNF580):c.184C>T(p.Pro62Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000339 in 1,474,516 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 (★).
Frequency
Consequence
NM_207115.2 missense
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 |
---|---|---|---|---|---|---|---|---|
ZNF580 | NM_207115.2 | c.184C>T | p.Pro62Ser | missense_variant | Exon 2 of 2 | ENST00000325333.10 | NP_996998.1 | |
ZNF580 | NM_001163423.2 | c.184C>T | p.Pro62Ser | missense_variant | Exon 2 of 2 | NP_001156895.1 | ||
ZNF580 | NM_016202.2 | c.184C>T | p.Pro62Ser | missense_variant | Exon 1 of 1 | NP_057286.1 | ||
ZNF581 | XM_017026867.2 | c.-19-1861C>T | intron_variant | Intron 1 of 1 | XP_016882356.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152126Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000302 AC: 4AN: 1322390Hom.: 0 Cov.: 36 AF XY: 0.00000309 AC XY: 2AN XY: 648282
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152126Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.184C>T (p.P62S) alteration is located in exon 1 (coding exon 1) of the ZNF580 gene. This alteration results from a C to T substitution at nucleotide position 184, causing the proline (P) at amino acid position 62 to be replaced by a serine (S). 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