chr8-63015366-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_003878.3(GGH):c.923T>C(p.Ile308Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000044 in 1,409,874 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GGH | NM_003878.3 | c.923T>C | p.Ile308Thr | missense_variant | 9/9 | ENST00000260118.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GGH | ENST00000260118.7 | c.923T>C | p.Ile308Thr | missense_variant | 9/9 | 1 | NM_003878.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000591 AC: 9AN: 152226Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000612 AC: 14AN: 228642Hom.: 0 AF XY: 0.0000564 AC XY: 7AN XY: 124138
GnomAD4 exome AF: 0.0000421 AC: 53AN: 1257648Hom.: 0 Cov.: 17 AF XY: 0.0000347 AC XY: 22AN XY: 634714
GnomAD4 genome ? AF: 0.0000591 AC: 9AN: 152226Hom.: 0 Cov.: 32 AF XY: 0.0000941 AC XY: 7AN XY: 74372
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 12, 2022 | The c.923T>C (p.I308T) alteration is located in exon 9 (coding exon 9) of the GGH gene. This alteration results from a T to C substitution at nucleotide position 923, causing the isoleucine (I) at amino acid position 308 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