chr4-373164-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_003441.4(ZNF141):c.727G>A(p.Ala243Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,744 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A243V) has been classified as Uncertain significance.
Frequency
Consequence
NM_003441.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF141 | NM_003441.4 | c.727G>A | p.Ala243Thr | missense_variant | 4/4 | ENST00000240499.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF141 | ENST00000240499.8 | c.727G>A | p.Ala243Thr | missense_variant | 4/4 | 1 | NM_003441.4 | P1 | |
ZNF141 | ENST00000512994.5 | c.570+157G>A | intron_variant | 1 | |||||
ZNF141 | ENST00000505939.5 | c.227-9931G>A | intron_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 249840Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135384
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461744Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727166
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at