Classification
Category 3
non_synonymous
CMH MAF
5 /
14969 samples
(0.0334%)
5 het.,
0 hom.
(100%)
5 /
29938 total alleles
(0.0167%)
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.1739C>T
reference AA: P
variant AA: L
reference codon: cCa
variant codon: cTa
cDNA pos: 1824
CDS pos: 1739
translation impact: non_synonymous
protein sequence:
NP_001029027.1
AA pos: 580
hgvs_p: NP_001029027.1:p.Pro580Leu
blosum: -3
SIFT: tolerated_low_confidence (0.13)
PolyPhen2: benign (0.004)
NM_001033857.1
[CDS]
hgvs_c: NM_001033857.1:c.1379C>T
reference AA: P
variant AA: L
reference codon: cCa
variant codon: cTa
cDNA pos: 1909
CDS pos: 1379
translation impact: non_synonymous
protein sequence:
NP_001029029.1
AA pos: 460
hgvs_p: NP_001029029.1:p.Pro460Leu
blosum: -3
SIFT: tolerated_low_confidence (0.15)
PolyPhen2: benign (0.004)
NM_001033858.1
[CDS]
hgvs_c: NM_001033858.1:c.1379C>T
reference AA: P
variant AA: L
reference codon: cCa
variant codon: cTa
cDNA pos: 2231
CDS pos: 1379
translation impact: non_synonymous
protein sequence:
NP_001029030.1
AA pos: 460
hgvs_p: NP_001029030.1:p.Pro460Leu
blosum: -3
SIFT: tolerated_low_confidence (0.15)
PolyPhen2: benign (0.004)
NM_022487.2
[CDS]
hgvs_c: NM_022487.2:c.1394C>T
reference AA: P
variant AA: L
reference codon: cCa
variant codon: cTa
cDNA pos: 1768
CDS pos: 1394
translation impact: non_synonymous
protein sequence:
NP_071932.2
AA pos: 465
hgvs_p: NP_071932.2:p.Pro465Leu
blosum: -3
SIFT: tolerated_low_confidence (0.13)
PolyPhen2: benign (0.009)
dbSNP
rs780103215
TOPMED_MAF = 0.00000796381243628
ClinVar
235552
clinvar_significance = Uncertain_significance
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 10398 |
0% |
| America/Latino |
0 / 11576 |
0% |
| East Asian |
0 / 8654 |
0% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
0 / 66736 |
0% |
| Other |
1 / 908 |
0.11% |
| South Asian |
0 / 16510 |
0% |
| Total MAF |
1 / 121396 |
0.000824% |
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 16256 |
0% |
| America/Latino |
0 / 34590 |
0% |
| Ashkenazi Jewish |
0 / 10078 |
0% |
| East Asian |
0 / 18394 |
0% |
| Finnish |
0 / 21644 |
0% |
| Non-Finnish |
0 / 113624 |
0% |
| Other |
1 / 6134 |
0.0163% |
| South Asian |
0 / 30616 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2668 |
0% |
| Estonian |
0 / 242 |
0% |
| North-Western European |
0 / 42142 |
0% |
| Southern European |
0 / 11490 |
0% |
| Swedish |
0 / 26132 |
0% |
| Other non-Finnish European |
0 / 30950 |
0% |
| Total MAF |
1 / 251336 |
0.000398% |
Export Variant