chr19-21183663-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_133473.4(ZNF431):c.1360A>G(p.Lys454Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000434 in 1,613,460 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_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.1360A>G | p.Lys454Glu | missense_variant | 5/5 | ENST00000311048.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF431 | ENST00000311048.11 | c.1360A>G | p.Lys454Glu | missense_variant | 5/5 | 1 | NM_133473.4 | P1 | |
ZNF431 | ENST00000600692.5 | c.*947A>G | 3_prime_UTR_variant | 6/6 | 5 | ||||
ZNF431 | ENST00000594425.5 | c.97-6202A>G | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000329 AC: 5AN: 152198Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461262Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726928
GnomAD4 genome ? AF: 0.0000329 AC: 5AN: 152198Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 09, 2021 | The c.1360A>G (p.K454E) alteration is located in exon 5 (coding exon 5) of the ZNF431 gene. This alteration results from a A to G substitution at nucleotide position 1360, causing the lysine (K) at amino acid position 454 to be replaced by a glutamic acid (E). 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