1:110170697-110170697 C > A

Classification

Category 3

polypyrimidine_tract

CMH MAF

2 / 6955 samples (0.0288%)
2 het., 0 hom. (100%)
2 / 13910 total alleles (0.0144%)

Genes

Consequences
gene: AMPD2 synonym(s): AMPD2, ENSG00000116337

NM_001257360.1 [intron] Reportable
hgvs_c: NM_001257360.1:c.1243-8C>A
splice impact: polypyrimidine_tract
protein sequence: NP_001244289.1

NM_001257361.1 [intron]
hgvs_c: NM_001257361.1:c.889-8C>A
protein sequence: NP_001244290.1

NM_004037.7 [intron]
hgvs_c: NM_004037.7:c.1243-8C>A
protein sequence: NP_004028.3

NM_139156.3 [intron]
hgvs_c: NM_139156.3:c.1000-8C>A
protein sequence: NP_631895.1

NM_203404.1 [intron]
hgvs_c: NM_203404.1:c.886-8C>A
protein sequence: NP_981949.1

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

TRNAN-GUU [intron] Reportable

dbSNP

rs145268448
GMAF = 0.000599
TOPMED_MAF = 0.00045393730886850

ClinVar

235369
clinvar_significance = Uncertain_significance
clinvar_submission_scv = SCV000280905.1

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.000000,0.000681,0.000231

ExAC

ExAC
Ethnicity Count / Number MAF
African 20 / 10334 0.194%
America/Latino 0 / 11532 0%
East Asian 0 / 8632 0%
Finnish 0 / 6594 0%
Non-Finnish 0 / 65870 0%
Other 0 / 888 0%
South Asian 0 / 14996 0%
Total MAF 20 / 118846 0.0168%

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 37 / 24012 0.154%
America/Latino 3 / 34352 0.00873%
Ashkenazi Jewish 0 / 9964 0%
East Asian 0 / 18858 0%
Finnish 0 / 25686 0%
Non-Finnish 1 / 125424 0.000797%
Other 2 / 6422 0.0311%
South Asian 0 / 30538 0%
Total MAF 43 / 275256 0.0156%


Export Variant

Curation

Uncertain Significance