Classification
Category 4
curation
CMH MAF
107 /
14969 samples
(0.715%)
105 het.,
2 hom.
(98.1%)
109 /
29938 total alleles
(0.364%)
Genes
gene: DCLRE1C
synonym(s): A-SCID, DCLREC1C, hSNM1C, RS-SCID, SCIDA, SNM1C, DCLRE1C, ENSG00000152457
NM_001033855.1
[CDS]
Reportable
hgvs_c: NM_001033855.1:c.959C>G
reference AA: S
variant AA: C
reference codon: tCc
variant codon: tGc
cDNA pos: 1044
CDS pos: 959
translation impact: non_synonymous
protein sequence:
NP_001029027.1
AA pos: 320
hgvs_p: NP_001029027.1:p.Ser320Cys
blosum: -1
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.995)
NM_001033857.1
[CDS]
hgvs_c: NM_001033857.1:c.599C>G
reference AA: S
variant AA: C
reference codon: tCc
variant codon: tGc
cDNA pos: 1129
CDS pos: 599
translation impact: non_synonymous
protein sequence:
NP_001029029.1
AA pos: 200
hgvs_p: NP_001029029.1:p.Ser200Cys
blosum: -1
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.995)
NM_001033858.1
[CDS]
hgvs_c: NM_001033858.1:c.599C>G
reference AA: S
variant AA: C
reference codon: tCc
variant codon: tGc
cDNA pos: 1451
CDS pos: 599
translation impact: non_synonymous
protein sequence:
NP_001029030.1
AA pos: 200
hgvs_p: NP_001029030.1:p.Ser200Cys
blosum: -1
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.995)
NM_022487.2
[CDS]
hgvs_c: NM_022487.2:c.614C>G
reference AA: S
variant AA: C
reference codon: tCc
variant codon: tGc
cDNA pos: 988
CDS pos: 614
translation impact: non_synonymous
protein sequence:
NP_071932.2
AA pos: 205
hgvs_p: NP_071932.2:p.Ser205Cys
blosum: -1
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.991)
dbSNP
rs41298896
GMAF = 0.01158
TOPMED_MAF = 0.01134843272171253
ClinVar
137073
clinvar_significance = Benign_Likely_benign
clinvar_disease = Severe combined immunodeficiency with sensitivity to ionizing radiation
clinvar_disease = Histiocytic medullary reticulosis
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000233,0.036995,0.012686
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
369 / 10292 |
3.59% |
| America/Latino |
25 / 11394 |
0.219% |
| East Asian |
0 / 8594 |
0% |
| Finnish |
0 / 6582 |
0% |
| Non-Finnish |
12 / 66320 |
0.0181% |
| Other |
3 / 900 |
0.333% |
| South Asian |
0 / 16284 |
0% |
| Total MAF |
409 / 120366 |
0.34% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
887 / 24962 |
3.55% |
| America/Latino |
74 / 35424 |
0.209% |
| Ashkenazi Jewish |
5 / 10362 |
0.0483% |
| East Asian |
0 / 19948 |
0% |
| Finnish |
0 / 25122 |
0% |
| Non-Finnish |
20 / 129084 |
0.0155% |
| Other |
17 / 7220 |
0.235% |
| South Asian |
2 / 30604 |
0.00654% |
| Korean |
0 / 3814 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14422 |
0% |
| Bulgarian |
0 / 2670 |
0% |
| Estonian |
0 / 4818 |
0% |
| North-Western European |
7 / 50780 |
0.0138% |
| Southern European |
7 / 11604 |
0.0603% |
| Swedish |
0 / 26130 |
0% |
| Other non-Finnish European |
6 / 33082 |
0.0181% |
| Total MAF |
1005 / 282726 |
0.355% |
curated_classification = 4
Export Variant