20-34852246-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_178026.3(GGT7):c.1496G>A(p.Gly499Asp) variant causes a missense change. The variant allele was found at a frequency of 0.00000124 in 1,613,778 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_178026.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GGT7 | ENST00000336431.10 | c.1496G>A | p.Gly499Asp | missense_variant | Exon 12 of 15 | 1 | NM_178026.3 | ENSP00000338964.5 | ||
GGT7 | ENST00000470952.2 | c.26G>A | p.Gly9Asp | missense_variant | Exon 1 of 3 | 5 | ENSP00000486190.1 | |||
GGT7 | ENST00000469018.5 | n.119G>A | non_coding_transcript_exon_variant | Exon 2 of 6 | 5 | ENSP00000486589.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152218Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461560Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727130
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152218Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1496G>A (p.G499D) alteration is located in exon 12 (coding exon 12) of the GGT7 gene. This alteration results from a G to A substitution at nucleotide position 1496, causing the glycine (G) at amino acid position 499 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