19-58455249-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_207395.3(ZNF324B):c.305C>T(p.Pro102Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000322 in 1,614,066 control chromosomes in the GnomAD database, including 2 homozygotes. 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_207395.3 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF324B | NM_207395.3 | c.305C>T | p.Pro102Leu | missense_variant | 4/4 | ENST00000336614.9 | NP_997278.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF324B | ENST00000336614.9 | c.305C>T | p.Pro102Leu | missense_variant | 4/4 | 1 | NM_207395.3 | ENSP00000337473 | P1 | |
ZNF324B | ENST00000545523.5 | c.305C>T | p.Pro102Leu | missense_variant | 5/5 | 1 | ENSP00000438930 | P1 | ||
ZNF324B | ENST00000599193.5 | c.305C>T | p.Pro102Leu | missense_variant | 4/4 | 3 | ENSP00000473115 | |||
ZNF324B | ENST00000599194.5 | c.305C>T | p.Pro102Leu | missense_variant | 4/4 | 4 | ENSP00000472178 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152180Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000127 AC: 32AN: 251466Hom.: 2 AF XY: 0.000169 AC XY: 23AN XY: 135916
GnomAD4 exome AF: 0.0000342 AC: 50AN: 1461886Hom.: 2 Cov.: 31 AF XY: 0.0000536 AC XY: 39AN XY: 727244
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152180Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 12, 2021 | The c.305C>T (p.P102L) alteration is located in exon 4 (coding exon 3) of the ZNF324B gene. This alteration results from a C to T substitution at nucleotide position 305, causing the proline (P) at amino acid position 102 to be replaced by a leucine (L). 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