7-149847936-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001099220.3(ZNF862):c.443C>T(p.Pro148Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000411 in 1,606,664 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001099220.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF862 | ENST00000223210.5 | c.443C>T | p.Pro148Leu | missense_variant | Exon 4 of 8 | 5 | NM_001099220.3 | ENSP00000223210.4 | ||
ZNF862 | ENST00000460379.1 | c.191C>T | p.Pro64Leu | missense_variant | Exon 4 of 4 | 4 | ENSP00000417450.1 | |||
ZNF862 | ENST00000488265.1 | n.-191C>T | upstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.000394 AC: 60AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000342 AC: 80AN: 233756Hom.: 0 AF XY: 0.000284 AC XY: 36AN XY: 126728
GnomAD4 exome AF: 0.000413 AC: 601AN: 1454406Hom.: 1 Cov.: 32 AF XY: 0.000387 AC XY: 280AN XY: 722816
GnomAD4 genome AF: 0.000394 AC: 60AN: 152258Hom.: 0 Cov.: 32 AF XY: 0.000510 AC XY: 38AN XY: 74444
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.443C>T (p.P148L) alteration is located in exon 4 (coding exon 4) of the ZNF862 gene. This alteration results from a C to T substitution at nucleotide position 443, causing the proline (P) at amino acid position 148 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