rs1916830
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_181646.5(ZNF804B):c.743G>A(p.Cys248Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0347 in 1,613,456 control chromosomes in the GnomAD database, including 7,354 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 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_181646.5 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 |
---|---|---|---|---|---|---|---|
ZNF804B | NM_181646.5 | c.743G>A | p.Cys248Tyr | missense_variant | 4/4 | ENST00000333190.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF804B | ENST00000333190.5 | c.743G>A | p.Cys248Tyr | missense_variant | 4/4 | 1 | NM_181646.5 | P1 | |
ZNF804B | ENST00000611114.1 | c.494G>A | p.Cys165Tyr | missense_variant | 3/3 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0415 AC: 6305AN: 151964Hom.: 753 Cov.: 32
GnomAD3 exomes AF: 0.0882 AC: 22034AN: 249928Hom.: 3305 AF XY: 0.0817 AC XY: 11048AN XY: 135218
GnomAD4 exome AF: 0.0340 AC: 49700AN: 1461374Hom.: 6600 Cov.: 32 AF XY: 0.0358 AC XY: 26036AN XY: 726980
GnomAD4 genome ? AF: 0.0415 AC: 6309AN: 152082Hom.: 754 Cov.: 32 AF XY: 0.0466 AC XY: 3465AN XY: 74328
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at