chr20-34851277-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_178026.3(GGT7):c.1679C>G(p.Ala560Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. A560T) has been classified 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GGT7 | NM_178026.3 | c.1679C>G | p.Ala560Gly | missense_variant | 13/15 | ENST00000336431.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GGT7 | ENST00000336431.10 | c.1679C>G | p.Ala560Gly | missense_variant | 13/15 | 1 | NM_178026.3 | P1 | |
GGT7 | ENST00000470952.2 | c.212C>G | p.Ala71Gly | missense_variant | 2/3 | 5 | |||
GGT7 | ENST00000469018.5 | c.305C>G | p.Ala102Gly | missense_variant, NMD_transcript_variant | 3/6 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 01, 2022 | The c.1679C>G (p.A560G) alteration is located in exon 13 (coding exon 13) of the GGT7 gene. This alteration results from a C to G substitution at nucleotide position 1679, causing the alanine (A) at amino acid position 560 to be replaced by a glycine (G). 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
Publications
No publications associated with this variant yet.