16-23479806-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015044.4(GGA2):c.1088C>T(p.Thr363Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,836 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_015044.4 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 |
---|---|---|---|---|---|---|---|
GGA2 | NM_015044.4 | c.1088C>T | p.Thr363Ile | missense_variant | 11/17 | ENST00000309859.8 | |
GGA2 | XM_047433801.1 | c.1058C>T | p.Thr353Ile | missense_variant | 12/18 | ||
GGA2 | XM_047433802.1 | c.977C>T | p.Thr326Ile | missense_variant | 11/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GGA2 | ENST00000309859.8 | c.1088C>T | p.Thr363Ile | missense_variant | 11/17 | 1 | NM_015044.4 | P1 | |
GGA2 | ENST00000567468.5 | c.624+6940C>T | intron_variant | 2 | |||||
GGA2 | ENST00000569182.1 | n.274C>T | non_coding_transcript_exon_variant | 2/5 | 4 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461836Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727218
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.