16:9892232-9892232 C > G

Classification

Category 1

curation

CMH MAF

1 / 13144 samples (0.00761%)
1 het., 0 hom. (100%)
1 / 26288 total alleles (0.0038%)

Genes

Consequences
gene: GRIN2A synonym(s): EPND, GluN2A, NMDAR2A, NR2A, GRIN2A, ENSG00000183454

NM_000833.3 [CDS] Reportable
hgvs_c: NM_000833.3:c.2258G>C
reference AA: G
variant AA: A
reference codon: gGg
variant codon: gCg
cDNA pos: 2568
CDS pos: 2258
translation impact: non_synonymous
protein sequence: NP_000824.1
AA pos: 753
hgvs_p: NP_000824.1:p.Gly753Ala
blosum: 0
SIFT: deleterious (0.0)
PolyPhen2: possibly_damaging (0.679)

NM_001134407.1 [CDS]
hgvs_c: NM_001134407.1:c.2258G>C
reference AA: G
variant AA: A
reference codon: gGg
variant codon: gCg
cDNA pos: 2806
CDS pos: 2258
translation impact: non_synonymous
protein sequence: NP_001127879.1
AA pos: 753
hgvs_p: NP_001127879.1:p.Gly753Ala
blosum: 0
SIFT: deleterious (0.0)
PolyPhen2: possibly_damaging (0.679)

NM_001134408.1 [CDS]
hgvs_c: NM_001134408.1:c.2258G>C
reference AA: G
variant AA: A
reference codon: gGg
variant codon: gCg
cDNA pos: 2467
CDS pos: 2258
translation impact: non_synonymous
protein sequence: NP_001127880.1
AA pos: 753
hgvs_p: NP_001127880.1:p.Gly753Ala
blosum: 0
SIFT: deleterious (0.0)
PolyPhen2: possibly_damaging (0.481)

ClinVar

445656
clinvar_significance = Likely_pathogenic
curated_classification = 1

Export Variant

Curation

Likely pathogenic