chr7-80458698-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001102386.3(GNAT3):āc.1038G>Cā(p.Glu346Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000506 in 1,581,118 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 (ā ).
Frequency
Consequence
NM_001102386.3 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GNAT3 | NM_001102386.3 | c.1038G>C | p.Glu346Asp | missense_variant | 8/8 | ENST00000398291.4 | NP_001095856.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GNAT3 | ENST00000398291.4 | c.1038G>C | p.Glu346Asp | missense_variant | 8/8 | 1 | NM_001102386.3 | ENSP00000381339 | P1 | |
CD36 | ENST00000435819.5 | c.-477-27769C>G | intron_variant | 2 | ENSP00000399421 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152120Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000210 AC: 3AN: 1428998Hom.: 0 Cov.: 28 AF XY: 0.00000141 AC XY: 1AN XY: 709534
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152120Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74294
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 18, 2023 | The c.1038G>C (p.E346D) alteration is located in exon 8 (coding exon 8) of the GNAT3 gene. This alteration results from a G to C substitution at nucleotide position 1038, causing the glutamic acid (E) at amino acid position 346 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