12-8177245-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001004328.3(ZNF705A):c.565C>T(p.Arg189Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000104 in 1,611,624 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_001004328.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF705A | ENST00000396570.8 | c.565C>T | p.Arg189Trp | missense_variant | Exon 6 of 6 | 5 | NM_001004328.3 | ENSP00000379816.4 | ||
ZNF705A | ENST00000359286.4 | c.565C>T | p.Arg189Trp | missense_variant | Exon 5 of 5 | 2 | ENSP00000352233.4 | |||
ZNF705A | ENST00000610508.4 | c.565C>T | p.Arg189Trp | missense_variant | Exon 6 of 6 | 5 | ENSP00000481663.1 | |||
ZNF705A | ENST00000398526.2 | c.271+60C>T | intron_variant | Intron 2 of 2 | 3 | ENSP00000475525.1 |
Frequencies
GnomAD3 genomes AF: 0.000316 AC: 48AN: 152102Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000104 AC: 26AN: 250278Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135492
GnomAD4 exome AF: 0.0000815 AC: 119AN: 1459406Hom.: 0 Cov.: 77 AF XY: 0.0000909 AC XY: 66AN XY: 725972
GnomAD4 genome AF: 0.000315 AC: 48AN: 152218Hom.: 0 Cov.: 32 AF XY: 0.000336 AC XY: 25AN XY: 74418
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.565C>T (p.R189W) alteration is located in exon 5 (coding exon 5) of the ZNF705A gene. This alteration results from a C to T substitution at nucleotide position 565, causing the arginine (R) at amino acid position 189 to be replaced by a tryptophan (W). 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