rs34687659
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_024702.3(ZNF750):āc.1175A>Gā(p.Gln392Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00744 in 1,613,872 control chromosomes in the GnomAD database, including 755 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_024702.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF750 | NM_024702.3 | c.1175A>G | p.Gln392Arg | missense_variant | 2/3 | ENST00000269394.4 | |
TBCD | NM_005993.5 | c.1318+16346T>C | intron_variant | ENST00000355528.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF750 | ENST00000269394.4 | c.1175A>G | p.Gln392Arg | missense_variant | 2/3 | 1 | NM_024702.3 | P1 | |
TBCD | ENST00000355528.9 | c.1318+16346T>C | intron_variant | 1 | NM_005993.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0389 AC: 5923AN: 152182Hom.: 393 Cov.: 32
GnomAD3 exomes AF: 0.00998 AC: 2505AN: 251126Hom.: 143 AF XY: 0.00693 AC XY: 941AN XY: 135750
GnomAD4 exome AF: 0.00413 AC: 6032AN: 1461572Hom.: 351 Cov.: 35 AF XY: 0.00360 AC XY: 2614AN XY: 727078
GnomAD4 genome ? AF: 0.0392 AC: 5971AN: 152300Hom.: 404 Cov.: 32 AF XY: 0.0385 AC XY: 2869AN XY: 74464
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at