19-9295575-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_198535.3(ZNF699):c.1829C>A(p.Thr610Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,613,710 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198535.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF699 | NM_198535.3 | c.1829C>A | p.Thr610Asn | missense_variant | 6/6 | ENST00000591998.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF699 | ENST00000591998.6 | c.1829C>A | p.Thr610Asn | missense_variant | 6/6 | 5 | NM_198535.3 | P1 | |
ZNF699 | ENST00000308650.4 | c.1829C>A | p.Thr610Asn | missense_variant | 5/5 | 1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151894Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250804Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135796
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461816Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727208
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151894Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74186
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at