chr19-21971277-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_007153.3(ZNF208):c.3757T>C(p.Tyr1253His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,460,158 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_007153.3 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 |
---|---|---|---|---|---|---|---|
ZNF208 | NM_007153.3 | c.3757T>C | p.Tyr1253His | missense_variant | 4/4 | ENST00000397126.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF208 | ENST00000397126.9 | c.3757T>C | p.Tyr1253His | missense_variant | 4/4 | 3 | NM_007153.3 | P1 | |
ZNF208 | ENST00000599916.5 | c.305+3452T>C | intron_variant | 1 | |||||
ZNF208 | ENST00000601773.5 | c.226+15939T>C | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000409 AC: 1AN: 244514Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133172
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460158Hom.: 0 Cov.: 126 AF XY: 0.00000275 AC XY: 2AN XY: 726426
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 17, 2022 | The c.3757T>C (p.Y1253H) alteration is located in exon 4 (coding exon 4) of the ZNF208 gene. This alteration results from a T to C substitution at nucleotide position 3757, causing the tyrosine (Y) at amino acid position 1253 to be replaced by a histidine (H). 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