chr7-127373618-G-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_176814.5(ZNF800):āc.1718C>Gā(p.Ala573Gly) variant causes a missense change. The variant allele was found at a frequency of 0.000177 in 1,614,012 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A573T) has been classified as Uncertain significance.
Frequency
Consequence
NM_176814.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF800 | NM_176814.5 | c.1718C>G | p.Ala573Gly | missense_variant | 5/6 | ENST00000265827.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF800 | ENST00000265827.8 | c.1718C>G | p.Ala573Gly | missense_variant | 5/6 | 1 | NM_176814.5 | P1 | |
ZNF800 | ENST00000393312.5 | c.1718C>G | p.Ala573Gly | missense_variant | 5/6 | 5 | P1 | ||
ZNF800 | ENST00000393313.5 | c.1718C>G | p.Ala573Gly | missense_variant | 5/6 | 5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152052Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000251 AC: 63AN: 250524Hom.: 0 AF XY: 0.000265 AC XY: 36AN XY: 135676
GnomAD4 exome AF: 0.000183 AC: 268AN: 1461842Hom.: 0 Cov.: 33 AF XY: 0.000219 AC XY: 159AN XY: 727216
GnomAD4 genome AF: 0.000112 AC: 17AN: 152170Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74380
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 02, 2023 | The c.1718C>G (p.A573G) alteration is located in exon 5 (coding exon 4) of the ZNF800 gene. This alteration results from a C to G substitution at nucleotide position 1718, causing the alanine (A) at amino acid position 573 to be replaced by a glycine (G). 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