chr7-127374170-G-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_176814.5(ZNF800):c.1166C>A(p.Thr389Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000018 in 1,613,680 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 (★).
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.1166C>A | p.Thr389Lys | missense_variant | 5/6 | ENST00000265827.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF800 | ENST00000265827.8 | c.1166C>A | p.Thr389Lys | missense_variant | 5/6 | 1 | NM_176814.5 | P1 | |
ZNF800 | ENST00000393312.5 | c.1166C>A | p.Thr389Lys | missense_variant | 5/6 | 5 | P1 | ||
ZNF800 | ENST00000393313.5 | c.1166C>A | p.Thr389Lys | missense_variant | 5/6 | 5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152076Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250070Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135248
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461486Hom.: 0 Cov.: 33 AF XY: 0.00000963 AC XY: 7AN XY: 727076
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152194Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74416
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at