19-21183084-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_133473.4(ZNF431):c.781A>C(p.Lys261Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,768 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_133473.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF431 | NM_133473.4 | c.781A>C | p.Lys261Gln | missense_variant | 5/5 | ENST00000311048.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF431 | ENST00000311048.11 | c.781A>C | p.Lys261Gln | missense_variant | 5/5 | 1 | NM_133473.4 | P1 | |
ZNF431 | ENST00000598331.1 | c.901A>C | p.Lys301Gln | missense_variant | 6/6 | 5 | |||
ZNF431 | ENST00000600692.5 | c.*368A>C | 3_prime_UTR_variant | 6/6 | 5 | ||||
ZNF431 | ENST00000594425.5 | c.97-6781A>C | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248918Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135078
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461768Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727186
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 10, 2022 | The c.781A>C (p.K261Q) alteration is located in exon 5 (coding exon 5) of the ZNF431 gene. This alteration results from a A to C substitution at nucleotide position 781, causing the lysine (K) at amino acid position 261 to be replaced by a glutamine (Q). 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