1:76226906-76226906 C > T

Classification

Category 1

CMH MAF

1 / 8745 samples (0.0114%)
1 het., 0 hom. (100%)
1 / 17490 total alleles (0.00572%)

Genes

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

TRNAN-GUU [intron] Reportable

gene: ACADM synonym(s): ACAD1, MCAD, MCADH, ACADM, ENSG00000117054

NM_000016.4 [CDS] Reportable
hgvs_c: NM_000016.4:c.1045C>T
reference AA: R
variant AA: *
reference codon: Cga
variant codon: Tga
cDNA pos: 1475
CDS pos: 1045
translation impact: premature_stop
protein sequence: NP_000007.1
AA pos: 349
hgvs_p: NP_000007.1:p.Arg349Ter
blosum: -4

NM_001127328.1 [CDS]
hgvs_c: NM_001127328.1:c.1057C>T
reference AA: R
variant AA: *
reference codon: Cga
variant codon: Tga
cDNA pos: 1487
CDS pos: 1057
translation impact: premature_stop
protein sequence: NP_001120800.1
AA pos: 353
hgvs_p: NP_001120800.1:p.Arg353Ter
blosum: -4

dbSNP

rs148207467
GMAF = 0.0001997
TOPMED_MAF = 0.00000796381243628

ClinVar

189016
clinvar_significance = Pathogenic_Likely_pathogenic
clinvar_disease = Medium-chain acyl-coenzyme A dehydrogenase deficiency
clinvar_submission_scv = SCV000510972.1

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.000000,0.000227,0.000077

ExAC

ExAC
Ethnicity Count / Number MAF
African 1 / 10404 0.00961%
America/Latino 0 / 11578 0%
East Asian 0 / 8654 0%
Finnish 0 / 6614 0%
Non-Finnish 0 / 66740 0%
Other 0 / 908 0%
South Asian 1 / 16510 0.00606%
Total MAF 2 / 121408 0.00165%

COSMIC

COSMIC Mutation ID = COSM4658711
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true
COSMIC Mutation ID = COSM259283
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 1 / 24034 0.00416%
America/Latino 0 / 34416 0%
Ashkenazi Jewish 0 / 10148 0%
East Asian 0 / 18866 0%
Finnish 0 / 25792 0%
Non-Finnish 0 / 126612 0%
Other 0 / 6464 0%
South Asian 1 / 30782 0.00325%
Total MAF 2 / 277114 0.000722%


Export Variant

Curation

Pathogenic