chr19-14717018-C-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_032433.4(ZNF333):c.752C>A(p.Ala251Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0423 in 1,611,552 control chromosomes in the GnomAD database, including 1,649 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_032433.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF333 | NM_032433.4 | c.752C>A | p.Ala251Glu | missense_variant | 10/12 | ENST00000292530.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF333 | ENST00000292530.11 | c.752C>A | p.Ala251Glu | missense_variant | 10/12 | 1 | NM_032433.4 | P1 | |
ZNF333 | ENST00000540689.6 | c.752C>A | p.Ala251Glu | missense_variant | 10/12 | 1 | |||
ZNF333 | ENST00000597301.5 | n.838C>A | non_coding_transcript_exon_variant | 10/11 | 2 | ||||
ZNF333 | ENST00000598161.1 | c.*808C>A | 3_prime_UTR_variant, NMD_transcript_variant | 9/11 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0413 AC: 6285AN: 152090Hom.: 145 Cov.: 32
GnomAD3 exomes AF: 0.0454 AC: 11228AN: 247418Hom.: 348 AF XY: 0.0472 AC XY: 6305AN XY: 133542
GnomAD4 exome AF: 0.0424 AC: 61805AN: 1459344Hom.: 1504 Cov.: 30 AF XY: 0.0431 AC XY: 31244AN XY: 725690
GnomAD4 genome AF: 0.0413 AC: 6288AN: 152208Hom.: 145 Cov.: 32 AF XY: 0.0430 AC XY: 3196AN XY: 74410
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at