rs132630328
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM5PP2PP3_Strong
The NM_001205019.2(GK):c.1337A>G(p.Asp446Gly) variant causes a missense change involving the alteration of a conserved nucleotide. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D446V) has been classified as Pathogenic.
Frequency
Consequence
NM_001205019.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GK | NM_001205019.2 | c.1337A>G | p.Asp446Gly | missense_variant | 17/21 | ENST00000427190.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GK | ENST00000427190.6 | c.1337A>G | p.Asp446Gly | missense_variant | 17/21 | 5 | NM_001205019.2 | P1 | |
GK-AS1 | ENST00000464659.1 | n.464+2990T>C | intron_variant, non_coding_transcript_variant | 3 | |||||
ENST00000497961.1 | n.212-861A>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 23
GnomAD3 exomes AF: 0.00000545 AC: 1AN: 183519Hom.: 0 AF XY: 0.0000147 AC XY: 1AN XY: 67947
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 9.12e-7 AC: 1AN: 1096153Hom.: 0 Cov.: 30 AF XY: 0.00000277 AC XY: 1AN XY: 361553
GnomAD4 genome ? Cov.: 23
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at