16-71475876-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_006961.4(ZNF19):c.671G>A(p.Arg224Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0273 in 1,612,794 control chromosomes in the GnomAD database, including 784 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 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_006961.4 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 |
---|---|---|---|---|---|---|---|
ZNF19 | NM_006961.4 | c.671G>A | p.Arg224Gln | missense_variant | 6/6 | ENST00000288177.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF19 | ENST00000288177.10 | c.671G>A | p.Arg224Gln | missense_variant | 6/6 | 1 | NM_006961.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0213 AC: 3219AN: 151426Hom.: 51 Cov.: 32
GnomAD3 exomes AF: 0.0237 AC: 5938AN: 250722Hom.: 116 AF XY: 0.0233 AC XY: 3159AN XY: 135504
GnomAD4 exome AF: 0.0280 AC: 40861AN: 1461246Hom.: 733 Cov.: 70 AF XY: 0.0273 AC XY: 19840AN XY: 726956
GnomAD4 genome ? AF: 0.0212 AC: 3218AN: 151548Hom.: 51 Cov.: 32 AF XY: 0.0208 AC XY: 1538AN XY: 74036
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at