chr8-134478708-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_020863.4(ZFAT):c.3506A>C(p.Glu1169Ala) variant causes a missense change. The variant allele was found at a frequency of 0.00000511 in 1,566,346 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E1169D) has been classified as Uncertain significance.
Frequency
Consequence
NM_020863.4 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 | UniProt |
---|---|---|---|---|---|---|---|
ZFAT | NM_020863.4 | c.3506A>C | p.Glu1169Ala | missense_variant | 16/16 | ENST00000377838.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZFAT | ENST00000377838.8 | c.3506A>C | p.Glu1169Ala | missense_variant | 16/16 | 1 | NM_020863.4 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152136Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000113 AC: 2AN: 176298Hom.: 0 AF XY: 0.0000106 AC XY: 1AN XY: 94278
GnomAD4 exome AF: 0.00000495 AC: 7AN: 1414210Hom.: 0 Cov.: 32 AF XY: 0.00000859 AC XY: 6AN XY: 698618
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152136Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74314
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 22, 2023 | The c.3506A>C (p.E1169A) alteration is located in exon 16 (coding exon 16) of the ZFAT gene. This alteration results from a A to C substitution at nucleotide position 3506, causing the glutamic acid (E) at amino acid position 1169 to be replaced by an alanine (A). 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