rs2014572
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001023563.4(ZNF805):c.203G>A(p.Gly68Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.491 in 1,596,036 control chromosomes in the GnomAD database, including 197,680 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_001023563.4 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 |
---|---|---|---|---|---|---|---|
ZNF805 | NM_001023563.4 | c.203G>A | p.Gly68Glu | missense_variant | 3/4 | ENST00000414468.3 | |
ZNF805 | NM_001145078.2 | c.-197G>A | 5_prime_UTR_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF805 | ENST00000414468.3 | c.203G>A | p.Gly68Glu | missense_variant | 3/4 | 5 | NM_001023563.4 | P1 | |
ZNF805 | ENST00000354309.4 | c.-197G>A | 5_prime_UTR_variant | 2/3 | 5 |
Frequencies
GnomAD3 genomes AF: 0.439 AC: 66649AN: 151944Hom.: 15820 Cov.: 32
GnomAD3 exomes AF: 0.464 AC: 106374AN: 229304Hom.: 25990 AF XY: 0.473 AC XY: 58106AN XY: 122970
GnomAD4 exome AF: 0.496 AC: 716218AN: 1443974Hom.: 181863 Cov.: 48 AF XY: 0.498 AC XY: 356897AN XY: 716512
GnomAD4 genome AF: 0.438 AC: 66646AN: 152062Hom.: 15817 Cov.: 32 AF XY: 0.440 AC XY: 32682AN XY: 74312
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at