chr10-133309421-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_145806.4(ZNF511):āc.185A>Cā(p.Gln62Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000287 in 1,612,496 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q62H) has been classified as Uncertain significance.
Frequency
Consequence
NM_145806.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF511 | NM_145806.4 | c.185A>C | p.Gln62Pro | missense_variant | 2/6 | ENST00000361518.10 | |
ZNF511-PRAP1 | NM_001396060.1 | c.185A>C | p.Gln62Pro | missense_variant | 2/9 | ||
ZNF511 | NR_130127.2 | n.215A>C | non_coding_transcript_exon_variant | 2/6 | |||
TUBGCP2 | NR_046330.2 | n.718+2199T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF511 | ENST00000361518.10 | c.185A>C | p.Gln62Pro | missense_variant | 2/6 | 1 | NM_145806.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 152204Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000131 AC: 32AN: 245166Hom.: 0 AF XY: 0.0000974 AC XY: 13AN XY: 133500
GnomAD4 exome AF: 0.000302 AC: 441AN: 1460174Hom.: 0 Cov.: 32 AF XY: 0.000284 AC XY: 206AN XY: 726346
GnomAD4 genome AF: 0.000138 AC: 21AN: 152322Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74492
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 02, 2023 | The c.185A>C (p.Q62P) alteration is located in exon 2 (coding exon 2) of the ZNF511 gene. This alteration results from a A to C substitution at nucleotide position 185, causing the glutamine (Q) at amino acid position 62 to be replaced by a proline (P). 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