1-197199447-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_194314.3(ZBTB41):āc.1027A>Cā(p.Asn343His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000434 in 1,612,530 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_194314.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZBTB41 | NM_194314.3 | c.1027A>C | p.Asn343His | missense_variant | 2/11 | ENST00000367405.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZBTB41 | ENST00000367405.5 | c.1027A>C | p.Asn343His | missense_variant | 2/11 | 1 | NM_194314.3 | P1 | |
ZBTB41 | ENST00000467322.1 | c.1027A>C | p.Asn343His | missense_variant, NMD_transcript_variant | 1/11 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000158 AC: 24AN: 152168Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.0000601 AC: 15AN: 249792Hom.: 0 AF XY: 0.0000666 AC XY: 9AN XY: 135052
GnomAD4 exome AF: 0.0000315 AC: 46AN: 1460362Hom.: 0 Cov.: 32 AF XY: 0.0000303 AC XY: 22AN XY: 726508
GnomAD4 genome AF: 0.000158 AC: 24AN: 152168Hom.: 1 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 06, 2021 | The c.1027A>C (p.N343H) alteration is located in exon 1 (coding exon 1) of the ZBTB41 gene. This alteration results from a A to C substitution at nucleotide position 1027, causing the asparagine (N) at amino acid position 343 to be replaced by a histidine (H). 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