21-29553697-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_000830.6(GRIK1):c.2615G>T(p.Cys872Phe) variant causes a missense change. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000830.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 150878Hom.: 0 Cov.: 32 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000107 AC: 15AN: 1403832Hom.: 0 Cov.: 27 AF XY: 0.0000100 AC XY: 7AN XY: 697708
GnomAD4 genome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 150878Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 73602
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2615G>T (p.C872F) alteration is located in exon 17 (coding exon 17) of the GRIK1 gene. This alteration results from a G to T substitution at nucleotide position 2615, causing the cysteine (C) at amino acid position 872 to be replaced by a phenylalanine (F). 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.