6-57134841-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001031623.3(ZNF451):c.673C>A(p.Gln225Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000143 in 1,609,096 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_001031623.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152154Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000798 AC: 2AN: 250652Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135508
GnomAD4 exome AF: 0.00000549 AC: 8AN: 1456824Hom.: 0 Cov.: 29 AF XY: 0.00000276 AC XY: 2AN XY: 724986
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152272Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74452
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.673C>A (p.Q225K) alteration is located in exon 7 (coding exon 7) of the ZNF451 gene. This alteration results from a C to A substitution at nucleotide position 673, causing the glutamine (Q) at amino acid position 225 to be replaced by a lysine (K). 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