4-373165-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003441.4(ZNF141):c.728C>T(p.Ala243Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,613,678 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 Uncertain significance (★).
Frequency
Consequence
NM_003441.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF141 | NM_003441.4 | c.728C>T | p.Ala243Val | missense_variant | 4/4 | ENST00000240499.8 | NP_003432.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF141 | ENST00000240499.8 | c.728C>T | p.Ala243Val | missense_variant | 4/4 | 1 | NM_003441.4 | ENSP00000240499.7 | ||
ZNF141 | ENST00000512994.5 | c.570+158C>T | intron_variant | 1 | ENSP00000425799.1 | |||||
ZNF141 | ENST00000505939.5 | c.227-9930C>T | intron_variant | 5 | ENSP00000424403.1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151906Hom.: 0 Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461772Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727184
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151906Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74184
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 26, 2022 | The c.728C>T (p.A243V) alteration is located in exon 4 (coding exon 4) of the ZNF141 gene. This alteration results from a C to T substitution at nucleotide position 728, causing the alanine (A) at amino acid position 243 to be replaced by a valine (V). 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