chr8-63015406-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003878.3(GGH):c.883G>A(p.Ala295Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000217 in 1,472,798 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 (★).
Frequency
Consequence
NM_003878.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GGH | NM_003878.3 | c.883G>A | p.Ala295Thr | missense_variant | 9/9 | ENST00000260118.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GGH | ENST00000260118.7 | c.883G>A | p.Ala295Thr | missense_variant | 9/9 | 1 | NM_003878.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000125 AC: 19AN: 152102Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000171 AC: 4AN: 233302Hom.: 0 AF XY: 0.0000237 AC XY: 3AN XY: 126404
GnomAD4 exome AF: 0.00000984 AC: 13AN: 1320696Hom.: 0 Cov.: 19 AF XY: 0.0000105 AC XY: 7AN XY: 663958
GnomAD4 genome ? AF: 0.000125 AC: 19AN: 152102Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 09, 2023 | The c.883G>A (p.A295T) alteration is located in exon 9 (coding exon 9) of the GGH gene. This alteration results from a G to A substitution at nucleotide position 883, causing the alanine (A) at amino acid position 295 to be replaced by a threonine (T). 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