chr7-149210690-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003575.4(ZNF282):c.938C>T(p.Thr313Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000025 in 1,601,532 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 (★).
Frequency
Consequence
NM_003575.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF282 | NM_003575.4 | c.938C>T | p.Thr313Met | missense_variant | 5/8 | ENST00000610704.5 | |
ZNF282 | NM_001303481.3 | c.938C>T | p.Thr313Met | missense_variant | 5/9 | ||
ZNF282 | XM_006716151.5 | c.938C>T | p.Thr313Met | missense_variant | 5/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF282 | ENST00000610704.5 | c.938C>T | p.Thr313Met | missense_variant | 5/8 | 1 | NM_003575.4 | P1 | |
ZNF282 | ENST00000479907.1 | c.938C>T | p.Thr313Met | missense_variant | 5/9 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152202Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000215 AC: 5AN: 232906Hom.: 0 AF XY: 0.00000794 AC XY: 1AN XY: 125970
GnomAD4 exome AF: 0.0000269 AC: 39AN: 1449330Hom.: 0 Cov.: 31 AF XY: 0.0000264 AC XY: 19AN XY: 720186
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152202Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74350
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at