7-89333935-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_181646.5(ZNF804B):c.953T>C(p.Ile318Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000756 in 1,613,454 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_181646.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF804B | NM_181646.5 | c.953T>C | p.Ile318Thr | missense_variant | 4/4 | ENST00000333190.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF804B | ENST00000333190.5 | c.953T>C | p.Ile318Thr | missense_variant | 4/4 | 1 | NM_181646.5 | P1 | |
ZNF804B | ENST00000611114.1 | c.704T>C | p.Ile235Thr | missense_variant | 3/3 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152134Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000140 AC: 35AN: 249580Hom.: 0 AF XY: 0.000200 AC XY: 27AN XY: 134994
GnomAD4 exome AF: 0.0000814 AC: 119AN: 1461320Hom.: 0 Cov.: 35 AF XY: 0.000124 AC XY: 90AN XY: 726972
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152134Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 15, 2021 | The c.953T>C (p.I318T) alteration is located in exon 4 (coding exon 4) of the ZNF804B gene. This alteration results from a T to C substitution at nucleotide position 953, causing the isoleucine (I) at amino acid position 318 to be replaced by a threonine (T). 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