1:93303114-93303114 A > G

Classification

Category 4 curation
CMH MAF 177 / 13144 samples (1.35%)
176 het., 1 hom. (99.4%)
178 / 26288 total alleles (0.677%)

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron]

gene: RPL5 synonym(s): DBA6, L5, MSTP030, RPL5, ENSG00000122406

OMIM
OMIM:603634: RPL5 (Autosomal dominant inheritance)
OMIM:612561: Diamond-Blackfan anemia 6

NM_000969.3 [CDS]
hgvs_c: NM_000969.3:c.629A>G
reference AA: Y
variant AA: C
reference codon: tAc
variant codon: tGc
cDNA pos: 707
CDS pos: 629
translation impact: non_synonymous
protein sequence: NP_000960.2
AA pos: 210
hgvs_p: NP_000960.2:p.Tyr210Cys
blosum: -2
SIFT: tolerated (0.12)
PolyPhen2: probably_damaging (0.998)

gene: FAM69A synonym(s): FAM69A, ENSG00000154511

rs11540832
GMAF = 0.002196
TOPMED_MAF = 0.00594896788990825

238200
clinvar_significance = Benign_Likely_benign
clinvar_disease = Diamond-Blackfan anemia

EVS
EVS MAF (European American/African American/All) = 0.007683,0.001589,0.005617

ExAC Non-Finnish, (464 / 65458), 0.709%
COSMIC Mutation ID = COSV99044227
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = false

gnomAD Other non-Finnish European, (313 / 32890), 0.952% curated_classification = 4