19-53408470-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001040185.3(ZNF765):c.915C>G(p.Asp305Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000605 in 1,613,814 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001040185.3 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 |
---|---|---|---|---|---|---|---|
ZNF765 | NM_001040185.3 | c.915C>G | p.Asp305Glu | missense_variant | 4/4 | ENST00000396408.8 | |
ZNF765-ZNF761 | NM_001350496.2 | c.-1345+6279C>G | intron_variant | ||||
ZNF765 | NM_001350495.2 | c.756C>G | p.Asp252Glu | missense_variant | 3/3 | ||
ZNF765 | NR_146721.2 | n.260+6279C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF765 | ENST00000396408.8 | c.915C>G | p.Asp305Glu | missense_variant | 4/4 | 1 | NM_001040185.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000474 AC: 72AN: 151992Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000323 AC: 81AN: 250516Hom.: 0 AF XY: 0.000324 AC XY: 44AN XY: 135734
GnomAD4 exome AF: 0.000618 AC: 904AN: 1461822Hom.: 1 Cov.: 85 AF XY: 0.000606 AC XY: 441AN XY: 727206
GnomAD4 genome ? AF: 0.000474 AC: 72AN: 151992Hom.: 0 Cov.: 33 AF XY: 0.000391 AC XY: 29AN XY: 74216
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 07, 2022 | The c.915C>G (p.D305E) alteration is located in exon 4 (coding exon 3) of the ZNF765 gene. This alteration results from a C to G substitution at nucleotide position 915, causing the aspartic acid (D) at amino acid position 305 to be replaced by a glutamic acid (E). 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