11-58710016-C-A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_201648.3(GLYAT):c.641G>T(p.Gly214Val) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_201648.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GLYAT | NM_201648.3 | c.641G>T | p.Gly214Val | missense_variant | Exon 6 of 6 | ENST00000344743.8 | NP_964011.2 | |
GLYAT | XM_017017087.1 | c.449G>T | p.Gly150Val | missense_variant | Exon 6 of 6 | XP_016872576.1 | ||
GLYAT | NM_005838.4 | c.*570G>T | downstream_gene_variant | NP_005829.3 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.641G>T (p.G214V) alteration is located in exon 6 (coding exon 5) of the GLYAT gene. This alteration results from a G to T substitution at nucleotide position 641, causing the glycine (G) at amino acid position 214 to be replaced by a valine (V). 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.