chr19-12187079-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_003437.5(ZNF136):āc.701C>Gā(p.Thr234Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,613,718 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 (ā ).
Frequency
Consequence
NM_003437.5 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 |
---|---|---|---|---|---|---|---|
ZNF136 | NM_003437.5 | c.701C>G | p.Thr234Ser | missense_variant | 4/4 | ENST00000343979.6 | |
ZNF136 | NM_001348014.2 | c.605C>G | p.Thr202Ser | missense_variant | 5/5 | ||
ZNF136 | NM_001348013.2 | c.503C>G | p.Thr168Ser | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF136 | ENST00000343979.6 | c.701C>G | p.Thr234Ser | missense_variant | 4/4 | 1 | NM_003437.5 | P1 | |
ZNF136 | ENST00000464860.1 | n.1865C>G | non_coding_transcript_exon_variant | 3/3 | 1 | ||||
ZNF136 | ENST00000652580.1 | c.605C>G | p.Thr202Ser | missense_variant | 5/5 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151888Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251296Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135816
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461830Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727210
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151888Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74166
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 29, 2022 | The c.701C>G (p.T234S) alteration is located in exon 4 (coding exon 4) of the ZNF136 gene. This alteration results from a C to G substitution at nucleotide position 701, causing the threonine (T) at amino acid position 234 to be replaced by a serine (S). 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