18-76878093-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001306089.2(ZNF236):c.925A>T(p.Met309Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,613,346 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001306089.2 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF236 | NM_001306089.2 | c.925A>T | p.Met309Leu | missense_variant | 7/31 | ENST00000320610.14 | NP_001293018.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF236 | ENST00000320610.14 | c.925A>T | p.Met309Leu | missense_variant | 7/31 | 1 | NM_001306089.2 | ENSP00000322361.9 | ||
ZNF236 | ENST00000253159.12 | c.919A>T | p.Met307Leu | missense_variant | 7/31 | 1 | ENSP00000253159.8 | |||
ZNF236 | ENST00000543926.6 | n.919A>T | non_coding_transcript_exon_variant | 7/32 | 1 | ENSP00000444524.2 | ||||
ZNF236 | ENST00000579322.1 | n.1197A>T | non_coding_transcript_exon_variant | 6/8 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152234Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461112Hom.: 0 Cov.: 30 AF XY: 0.00000413 AC XY: 3AN XY: 726900
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152234Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 04, 2024 | The c.919A>T (p.M307L) alteration is located in exon 7 (coding exon 7) of the ZNF236 gene. This alteration results from a A to T substitution at nucleotide position 919, causing the methionine (M) at amino acid position 307 to be replaced by a leucine (L). 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