10-43608618-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_145312.4(ZNF485):c.29C>T(p.Pro10Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000135 in 1,612,978 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Likely benign (★).
Frequency
Consequence
NM_145312.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF485 | NM_145312.4 | c.29C>T | p.Pro10Leu | missense_variant | Exon 3 of 5 | ENST00000361807.8 | NP_660355.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF485 | ENST00000361807.8 | c.29C>T | p.Pro10Leu | missense_variant | Exon 3 of 5 | 1 | NM_145312.4 | ENSP00000354694.3 | ||
ZNF485 | ENST00000374435.3 | c.29C>T | p.Pro10Leu | missense_variant | Exon 3 of 5 | 1 | ENSP00000363558.3 | |||
ZNF485 | ENST00000430885.5 | c.29C>T | p.Pro10Leu | missense_variant | Exon 3 of 5 | 2 | ENSP00000393570.1 |
Frequencies
GnomAD3 genomes AF: 0.0000855 AC: 13AN: 152128Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000185 AC: 46AN: 249142Hom.: 0 AF XY: 0.000149 AC XY: 20AN XY: 134592
GnomAD4 exome AF: 0.000140 AC: 204AN: 1460850Hom.: 0 Cov.: 30 AF XY: 0.000128 AC XY: 93AN XY: 726586
GnomAD4 genome AF: 0.0000855 AC: 13AN: 152128Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74318
ClinVar
Submissions by phenotype
not specified Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at