1:981353-981353 C > T

Classification

Category 3

non_synonymous

CMH MAF

72 / 13144 samples (0.548%)
72 het., 0 hom. (100%)
72 / 26288 total alleles (0.274%)

Genes

Consequences
gene: AGRN synonym(s): AGRN, ENSG00000188157

NM_198576.3 [CDS] Reportable
hgvs_c: NM_198576.3:c.2690C>T
reference AA: A
variant AA: V
reference codon: gCg
variant codon: gTg
cDNA pos: 2740
CDS pos: 2690
translation impact: non_synonymous
protein sequence: NP_940978.2
AA pos: 897
hgvs_p: NP_940978.2:p.Ala897Val
blosum: 0
SIFT: tolerated (0.14)
PolyPhen2: possibly_damaging (0.798)

dbSNP

rs116836855
GMAF = 0.0009984
TOPMED_MAF = 0.00191927879714576

ClinVar

235570
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Myasthenic syndrome

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.002442,0.000000,0.001615

ExAC

ExAC
Ethnicity Count / Number MAF
African 2 / 10206 0.0196%
America/Latino 8 / 11514 0.0695%
East Asian 0 / 8586 0%
Finnish 1 / 6530 0.0153%
Non-Finnish 239 / 65692 0.364%
Other 0 / 892 0%
South Asian 1 / 16480 0.00607%
Total MAF 251 / 119900 0.209%

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 6 / 24850 0.0241%
America/Latino 74 / 35406 0.209%
Ashkenazi Jewish 0 / 10306 0%
East Asian 0 / 19916 0%
Finnish 14 / 24932 0.0562%
Non-Finnish 441 / 128238 0.344%
Other 6 / 7202 0.0833%
South Asian 2 / 30596 0.00654%
Korean 0 / 3816 0%
Japanese 0 / 134 0%
Other East Asian 0 / 14408 0%
Bulgarian 0 / 2660 0%
Estonian 9 / 4816 0.187%
North-Western European 167 / 50488 0.331%
Southern European 15 / 11546 0.13%
Swedish 146 / 26060 0.56%
Other non-Finnish European 104 / 32668 0.318%
Total MAF 543 / 281446 0.193%


Export Variant

Curation

Uncertain Significance