chr21-29576999-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001330994.2(GRIK1):c.2095G>A(p.Ala699Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,460,512 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. A699A) has been classified as Likely benign.
Frequency
Consequence
NM_001330994.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GRIK1 | NM_001330994.2 | c.2095G>A | p.Ala699Thr | missense_variant | 14/18 | ENST00000327783.9 | |
LOC105372768 | XR_937647.3 | n.173-31C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GRIK1 | ENST00000327783.9 | c.2095G>A | p.Ala699Thr | missense_variant | 14/18 | 5 | NM_001330994.2 | A1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460512Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726706
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2023 | The c.2095G>A (p.A699T) alteration is located in exon 14 (coding exon 14) of the GRIK1 gene. This alteration results from a G to A substitution at nucleotide position 2095, causing the alanine (A) at amino acid position 699 to be replaced by a threonine (T). 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.