chr7-149212407-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003575.4(ZNF282):āc.1002G>Cā(p.Glu334Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,460,804 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
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.1002G>C | p.Glu334Asp | missense_variant | 6/8 | ENST00000610704.5 | |
ZNF282 | NM_001303481.3 | c.1002G>C | p.Glu334Asp | missense_variant | 6/9 | ||
ZNF282 | XM_006716151.5 | c.1005G>C | p.Glu335Asp | missense_variant | 6/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF282 | ENST00000610704.5 | c.1002G>C | p.Glu334Asp | missense_variant | 6/8 | 1 | NM_003575.4 | P1 | |
ZNF282 | ENST00000479907.1 | c.1002G>C | p.Glu334Asp | missense_variant | 6/9 | 2 | |||
ZNF282 | ENST00000470381.1 | n.100G>C | non_coding_transcript_exon_variant | 1/3 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000800 AC: 2AN: 250018Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135162
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460804Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726678
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 05, 2023 | The c.1002G>C (p.E334D) alteration is located in exon 6 (coding exon 6) of the ZNF282 gene. This alteration results from a G to C substitution at nucleotide position 1002, causing the glutamic acid (E) at amino acid position 334 to be replaced by an aspartic acid (D). 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