rs1368607213
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001137601.3(ZBTB42):c.1031C>G(p.Ser344Trp) variant causes a missense change. The variant allele was found at a frequency of 0.000000715 in 1,397,804 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S344L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001137601.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZBTB42 | NM_001137601.3 | c.1031C>G | p.Ser344Trp | missense_variant | 1/1 | ENST00000342537.8 | |
ZBTB42 | NM_001370342.1 | c.1031C>G | p.Ser344Trp | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZBTB42 | ENST00000342537.8 | c.1031C>G | p.Ser344Trp | missense_variant | 1/1 | NM_001137601.3 | P1 | ||
ZBTB42 | ENST00000555360.1 | c.1031C>G | p.Ser344Trp | missense_variant | 2/2 | 1 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 7.15e-7 AC: 1AN: 1397804Hom.: 0 Cov.: 33 AF XY: 0.00000145 AC XY: 1AN XY: 689390
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at