rs762490192
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 1P and 1B. PP2BP6
The NM_007327.4(GRIN1):c.467G>A(p.Arg156His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000273 in 1,613,222 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R156S) has been classified as Uncertain significance.
Frequency
Consequence
NM_007327.4 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: 0.0000591 AC: 9AN: 152172Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000441 AC: 11AN: 249526Hom.: 0 AF XY: 0.0000444 AC XY: 6AN XY: 135248
GnomAD4 exome AF: 0.0000240 AC: 35AN: 1461050Hom.: 0 Cov.: 34 AF XY: 0.0000344 AC XY: 25AN XY: 726872
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152172Hom.: 0 Cov.: 34 AF XY: 0.0000538 AC XY: 4AN XY: 74332
ClinVar
Submissions by phenotype
Intellectual disability, autosomal dominant 8 Uncertain:1Benign:1
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Inborn genetic diseases Uncertain:1
The p.R156H variant (also known as c.467G>A), located in coding exon 3 of the GRIN1 gene, results from a G to A substitution at nucleotide position 467. The arginine at codon 156 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at