chr17-74842541-CTG-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000835.6(GRIN2C):c.3594_3595delCA(p.Tyr1198fs) variant causes a frameshift change. The variant allele was found at a frequency of 0.0000309 in 777,670 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
NM_000835.6 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GRIN2C | NM_000835.6 | c.3594_3595delCA | p.Tyr1198fs | frameshift_variant | Exon 13 of 13 | ENST00000293190.10 | NP_000826.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000992 AC: 15AN: 151208Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000329 AC: 8AN: 242992Hom.: 0 AF XY: 0.00000753 AC XY: 1AN XY: 132724
GnomAD4 exome AF: 0.0000144 AC: 9AN: 626346Hom.: 0 AF XY: 0.00000879 AC XY: 3AN XY: 341190
GnomAD4 genome AF: 0.0000991 AC: 15AN: 151324Hom.: 0 Cov.: 34 AF XY: 0.0000811 AC XY: 6AN XY: 74024
ClinVar
Submissions by phenotype
GRIN2C-related disorder Uncertain:1
The GRIN2C c.3594_3595delCA variant is predicted to result in premature protein termination (p.Tyr1198*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.051% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at