chr9-101579261-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_133445.3(GRIN3A):c.2866T>C(p.Tyr956His) variant causes a missense change. The variant allele was found at a frequency of 0.000367 in 1,613,892 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 (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_133445.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GRIN3A | NM_133445.3 | c.2866T>C | p.Tyr956His | missense_variant | 7/9 | ENST00000361820.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GRIN3A | ENST00000361820.6 | c.2866T>C | p.Tyr956His | missense_variant | 7/9 | 1 | NM_133445.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000217 AC: 33AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000259 AC: 65AN: 251262Hom.: 0 AF XY: 0.000280 AC XY: 38AN XY: 135780
GnomAD4 exome AF: 0.000383 AC: 560AN: 1461704Hom.: 0 Cov.: 32 AF XY: 0.000347 AC XY: 252AN XY: 727150
GnomAD4 genome ? AF: 0.000217 AC: 33AN: 152188Hom.: 0 Cov.: 32 AF XY: 0.000282 AC XY: 21AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 15, 2022 | The c.2866T>C (p.Y956H) alteration is located in exon 7 (coding exon 7) of the GRIN3A gene. This alteration results from a T to C substitution at nucleotide position 2866, causing the tyrosine (Y) at amino acid position 956 to be replaced by a histidine (H). 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