19-21536960-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001001415.4(ZNF429):c.907C>T(p.His303Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.000018 in 1,613,748 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001001415.4 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: 0.0000197 AC: 3AN: 152122Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 248502Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135030
GnomAD4 exome AF: 0.0000178 AC: 26AN: 1461626Hom.: 0 Cov.: 36 AF XY: 0.0000206 AC XY: 15AN XY: 727108
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152122Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74306
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.907C>T (p.H303Y) alteration is located in exon 4 (coding exon 4) of the ZNF429 gene. This alteration results from a C to T substitution at nucleotide position 907, causing the histidine (H) at amino acid position 303 to be replaced by a tyrosine (Y). 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