8-80664915-G-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001033723.3(ZNF704):āc.827C>Gā(p.Thr276Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000911 in 1,614,072 control chromosomes in the GnomAD database, including 2 homozygotes. 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 (ā ).
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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF704 | NM_001033723.3 | c.827C>G | p.Thr276Arg | missense_variant | 6/9 | ENST00000327835.7 | NP_001028895.1 | |
ZNF704 | NM_001367783.1 | c.1349C>G | p.Thr450Arg | missense_variant | 6/9 | NP_001354712.1 | ||
ZNF704 | XM_017013725.2 | c.851C>G | p.Thr284Arg | missense_variant | 6/9 | XP_016869214.1 | ||
ZNF704 | XR_928797.3 | n.1773C>G | non_coding_transcript_exon_variant | 6/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF704 | ENST00000327835.7 | c.827C>G | p.Thr276Arg | missense_variant | 6/9 | 1 | NM_001033723.3 | ENSP00000331462 | P1 | |
ZNF704 | ENST00000519936.2 | c.1349C>G | p.Thr450Arg | missense_variant | 6/9 | 5 | ENSP00000427715 | |||
ZNF704 | ENST00000522040.5 | n.374C>G | non_coding_transcript_exon_variant | 3/3 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000119 AC: 30AN: 251488Hom.: 1 AF XY: 0.000155 AC XY: 21AN XY: 135918
GnomAD4 exome AF: 0.0000965 AC: 141AN: 1461894Hom.: 2 Cov.: 32 AF XY: 0.0000990 AC XY: 72AN XY: 727248
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152178Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 27, 2023 | The c.827C>G (p.T276R) alteration is located in exon 6 (coding exon 5) of the ZNF704 gene. This alteration results from a C to G substitution at nucleotide position 827, causing the threonine (T) at amino acid position 276 to be replaced by an arginine (R). 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