19-8510886-G-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001146175.2(ZNF414):c.1064C>T(p.Pro355Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00127 in 1,124,106 control chromosomes in the GnomAD database, including 8 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001146175.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF414 | NM_001146175.2 | c.1064C>T | p.Pro355Leu | missense_variant | 7/8 | ENST00000393927.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF414 | ENST00000393927.9 | c.1064C>T | p.Pro355Leu | missense_variant | 7/8 | 1 | NM_001146175.2 | P1 | |
ZNF414 | ENST00000596772.5 | c.275C>T | p.Pro92Leu | missense_variant | 3/3 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00175 AC: 255AN: 145660Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00496 AC: 18AN: 3632Hom.: 0 AF XY: 0.00485 AC XY: 10AN XY: 2062
GnomAD4 exome AF: 0.00120 AC: 1175AN: 978334Hom.: 6 Cov.: 32 AF XY: 0.00125 AC XY: 577AN XY: 460962
GnomAD4 genome ? AF: 0.00174 AC: 254AN: 145772Hom.: 2 Cov.: 32 AF XY: 0.00186 AC XY: 132AN XY: 70920
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 12, 2021 | The c.1064C>T (p.P355L) alteration is located in exon 7 (coding exon 7) of the ZNF414 gene. This alteration results from a C to T substitution at nucleotide position 1064, causing the proline (P) at amino acid position 355 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