chr19-11948899-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_144566.3(ZNF700):c.875C>G(p.Ser292Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000138 in 1,451,834 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_144566.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF700 | NM_144566.3 | c.875C>G | p.Ser292Cys | missense_variant | 4/4 | ENST00000254321.10 | |
ZNF700 | NM_001271848.2 | c.884C>G | p.Ser295Cys | missense_variant | 4/4 | ||
ZNF69 | XM_017027231.2 | c.500-31142C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF700 | ENST00000254321.10 | c.875C>G | p.Ser292Cys | missense_variant | 4/4 | 1 | NM_144566.3 | P2 | |
ENST00000586394.1 | n.69-4083C>G | intron_variant, non_coding_transcript_variant | 3 | ||||||
ZNF700 | ENST00000622593.4 | c.884C>G | p.Ser295Cys | missense_variant | 4/4 | 4 | A2 | ||
ZNF700 | ENST00000482090.1 | c.821C>G | p.Ser274Cys | missense_variant | 3/3 | 2 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1451834Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 722186
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 26, 2023 | The c.875C>G (p.S292C) alteration is located in exon 4 (coding exon 4) of the ZNF700 gene. This alteration results from a C to G substitution at nucleotide position 875, causing the serine (S) at amino acid position 292 to be replaced by a cysteine (C). 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