19-43847265-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_181845.2(ZNF283):c.664C>T(p.Leu222Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,148 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_181845.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF283 | ENST00000618787.5 | c.664C>T | p.Leu222Phe | missense_variant | Exon 7 of 7 | 2 | NM_181845.2 | ENSP00000484852.1 | ||
ZNF283 | ENST00000324461.9 | c.664C>T | p.Leu222Phe | missense_variant | Exon 4 of 4 | 1 | ENSP00000327314.7 | |||
ZNF283 | ENST00000650832.1 | c.556C>T | p.Leu186Phe | missense_variant | Exon 7 of 7 | ENSP00000498705.1 | ||||
ZNF283 | ENST00000588797.6 | c.*264C>T | 3_prime_UTR_variant | Exon 6 of 6 | 2 | ENSP00000468708.2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152148Hom.: 0 Cov.: 33
GnomAD4 exome Cov.: 40
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152148Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.664C>T (p.L222F) alteration is located in exon 7 (coding exon 4) of the ZNF283 gene. This alteration results from a C to T substitution at nucleotide position 664, causing the leucine (L) at amino acid position 222 to be replaced by a phenylalanine (F). 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