chr8-63017495-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_003878.3(GGH):c.833A>G(p.Glu278Gly) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.0000055 in 1,455,208 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003878.3 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GGH | NM_003878.3 | c.833A>G | p.Glu278Gly | missense_variant, splice_region_variant | 8/9 | ENST00000260118.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GGH | ENST00000260118.7 | c.833A>G | p.Glu278Gly | missense_variant, splice_region_variant | 8/9 | 1 | NM_003878.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000550 AC: 8AN: 1455208Hom.: 0 Cov.: 28 AF XY: 0.00000553 AC XY: 4AN XY: 723836
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 20, 2023 | The c.833A>G (p.E278G) alteration is located in exon 8 (coding exon 8) of the GGH gene. This alteration results from a A to G substitution at nucleotide position 833, causing the glutamic acid (E) at amino acid position 278 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.