10-62376533-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014951.3(ZNF365):c.340C>T(p.Pro114Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000155 in 1,613,928 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014951.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF365 | ENST00000395254.8 | c.340C>T | p.Pro114Ser | missense_variant | 2/5 | 1 | NM_014951.3 | ENSP00000378674.3 | ||
ENSG00000285837 | ENST00000647733.1 | c.340C>T | p.Pro114Ser | missense_variant | 2/8 | ENSP00000502188.1 | ||||
ZNF365 | ENST00000395255.7 | c.340C>T | p.Pro114Ser | missense_variant | 2/5 | 1 | ENSP00000378675.3 | |||
ZNF365 | ENST00000466727.1 | n.106+2075C>T | intron_variant | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152158Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251336Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135850
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461770Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 727178
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152158Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 26, 2024 | The c.340C>T (p.P114S) alteration is located in exon 2 (coding exon 1) of the ZNF365 gene. This alteration results from a C to T substitution at nucleotide position 340, causing the proline (P) at amino acid position 114 to be replaced by a serine (S). 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