20-34851310-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_178026.3(GGT7):c.1646G>A(p.Arg549Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000157 in 1,461,620 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GGT7 | ENST00000336431.10 | c.1646G>A | p.Arg549Gln | missense_variant | Exon 13 of 15 | 1 | NM_178026.3 | ENSP00000338964.5 | ||
GGT7 | ENST00000470952.2 | c.176G>A | p.Arg59Gln | missense_variant | Exon 2 of 3 | 5 | ENSP00000486190.1 | |||
GGT7 | ENST00000469018.5 | n.269G>A | non_coding_transcript_exon_variant | Exon 3 of 6 | 5 | ENSP00000486589.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 250784Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135614
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461620Hom.: 0 Cov.: 32 AF XY: 0.0000193 AC XY: 14AN XY: 727110
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1646G>A (p.R549Q) alteration is located in exon 13 (coding exon 13) of the GGT7 gene. This alteration results from a G to A substitution at nucleotide position 1646, causing the arginine (R) at amino acid position 549 to be replaced by a glutamine (Q). 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