5-178932077-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000361362.7(ZFP2):āc.764T>Gā(p.Met255Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000991 in 1,613,814 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
ENST00000361362.7 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZFP2 | NM_030613.4 | c.764T>G | p.Met255Arg | missense_variant | 5/5 | ENST00000361362.7 | NP_085116.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZFP2 | ENST00000361362.7 | c.764T>G | p.Met255Arg | missense_variant | 5/5 | 1 | NM_030613.4 | ENSP00000354453 | P1 | |
ZFP2 | ENST00000523286.1 | c.764T>G | p.Met255Arg | missense_variant | 5/5 | 1 | ENSP00000430531 | P1 | ||
ZFP2 | ENST00000520301.5 | c.764T>G | p.Met255Arg | missense_variant | 4/4 | 5 | ENSP00000430980 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151982Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251228Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135788
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461832Hom.: 0 Cov.: 37 AF XY: 0.00000550 AC XY: 4AN XY: 727210
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151982Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74230
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 27, 2024 | The c.764T>G (p.M255R) alteration is located in exon 5 (coding exon 1) of the ZFP2 gene. This alteration results from a T to G substitution at nucleotide position 764, causing the methionine (M) at amino acid position 255 to be replaced by an arginine (R). 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