8-80821513-T-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001033723.3(ZNF704):c.82A>G(p.Met28Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000124 in 1,614,028 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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
Genome browser will be placed here
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.82A>G | p.Met28Val | missense_variant | Exon 2 of 9 | ENST00000327835.7 | NP_001028895.1 | |
ZNF704 | NM_001367783.1 | c.604A>G | p.Met202Val | missense_variant | Exon 2 of 9 | NP_001354712.1 | ||
ZNF704 | XM_017013725.2 | c.106A>G | p.Met36Val | missense_variant | Exon 2 of 9 | XP_016869214.1 | ||
ZNF704 | XR_928797.3 | n.1028A>G | non_coding_transcript_exon_variant | Exon 2 of 10 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000956 AC: 24AN: 251092Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135680
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461822Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 727204
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152206Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.82A>G (p.M28V) 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 82, causing the methionine (M) at amino acid position 28 to be replaced by a valine (V). 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