chr17-34962185-A-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_052857.4(ZNF830):āc.619A>Gā(p.Asn207Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000164 in 1,614,108 control chromosomes in the GnomAD database, including 3 homozygotes. 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 Likely benign (ā ).
Frequency
Consequence
NM_052857.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF830 | NM_052857.4 | c.619A>G | p.Asn207Asp | missense_variant | 1/1 | ENST00000361952.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF830 | ENST00000361952.5 | c.619A>G | p.Asn207Asp | missense_variant | 1/1 | NM_052857.4 | P1 | ||
CCT6B | ENST00000585073.1 | c.-90-7586T>C | intron_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152198Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000255 AC: 64AN: 250642Hom.: 0 AF XY: 0.000280 AC XY: 38AN XY: 135706
GnomAD4 exome AF: 0.000168 AC: 245AN: 1461792Hom.: 3 Cov.: 33 AF XY: 0.000184 AC XY: 134AN XY: 727196
GnomAD4 genome AF: 0.000125 AC: 19AN: 152316Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74486
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 16, 2023 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at