chr7-55923172-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_182633.3(ZNF713):c.98C>T(p.Thr33Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000013 in 1,611,824 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_182633.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF713 | ENST00000429591.4 | c.98C>T | p.Thr33Met | missense_variant | Exon 5 of 7 | 5 | NM_182633.3 | ENSP00000416662.3 | ||
ENSG00000249773 | ENST00000426595.1 | c.59C>T | p.Thr20Met | missense_variant | Exon 5 of 8 | 5 | ENSP00000390331.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152098Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249382Hom.: 0 AF XY: 0.0000297 AC XY: 4AN XY: 134840
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1459608Hom.: 0 Cov.: 31 AF XY: 0.0000138 AC XY: 10AN XY: 726162
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152216Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74418
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.59C>T (p.T20M) alteration is located in exon 2 (coding exon 2) of the ZNF713 gene. This alteration results from a C to T substitution at nucleotide position 59, causing the threonine (T) at amino acid position 20 to be replaced by a methionine (M). 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