chr8-80821474-T-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001033723.3(ZNF704):c.121A>G(p.Ser41Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000607 in 1,614,074 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001033723.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF704 | NM_001033723.3 | c.121A>G | p.Ser41Gly | missense_variant | Exon 2 of 9 | ENST00000327835.7 | NP_001028895.1 | |
ZNF704 | NM_001367783.1 | c.643A>G | p.Ser215Gly | missense_variant | Exon 2 of 9 | NP_001354712.1 | ||
ZNF704 | XM_017013725.2 | c.145A>G | p.Ser49Gly | missense_variant | Exon 2 of 9 | XP_016869214.1 | ||
ZNF704 | XR_928797.3 | n.1067A>G | non_coding_transcript_exon_variant | Exon 2 of 10 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152228Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000637 AC: 16AN: 251220Hom.: 0 AF XY: 0.0000884 AC XY: 12AN XY: 135758
GnomAD4 exome AF: 0.0000602 AC: 88AN: 1461846Hom.: 0 Cov.: 31 AF XY: 0.0000591 AC XY: 43AN XY: 727222
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152228Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.121A>G (p.S41G) alteration is located in exon 2 (coding exon 1) of the ZNF704 gene. This alteration results from a A to G substitution at nucleotide position 121, causing the serine (S) at amino acid position 41 to be replaced by a glycine (G). 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