8-143250254-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_173832.6(ZFP41):c.411C>A(p.His137Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000527 in 1,614,002 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_173832.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZFP41 | NM_173832.6 | c.411C>A | p.His137Gln | missense_variant | Exon 2 of 3 | ENST00000330701.7 | NP_776193.3 | |
ZFP41 | NM_001271156.3 | c.411C>A | p.His137Gln | missense_variant | Exon 2 of 3 | NP_001258085.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZFP41 | ENST00000330701.7 | c.411C>A | p.His137Gln | missense_variant | Exon 2 of 3 | 2 | NM_173832.6 | ENSP00000327427.6 | ||
ZFP41 | ENST00000520584.6 | c.411C>A | p.His137Gln | missense_variant | Exon 2 of 3 | 1 | ENSP00000430465.3 | |||
ENSG00000264668 | ENST00000522452.2 | c.411C>A | p.His137Gln | missense_variant | Exon 2 of 4 | 1 | ENSP00000428966.3 |
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152218Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000636 AC: 16AN: 251382Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135860
GnomAD4 exome AF: 0.0000520 AC: 76AN: 1461784Hom.: 0 Cov.: 33 AF XY: 0.0000481 AC XY: 35AN XY: 727162
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152218Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.411C>A (p.H137Q) alteration is located in exon 2 (coding exon 1) of the ZFP41 gene. This alteration results from a C to A substitution at nucleotide position 411, causing the histidine (H) at amino acid position 137 to be replaced by a glutamine (Q). 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