Classification
Category 2
non_synonymous
CMH MAF
2 /
6955 samples
(0.0288%)
2 het.,
0 hom.
(100%)
2 /
13910 total alleles
(0.0144%)
Genes
gene: LTBP3
synonym(s): LTBP-3, LTBP2, pp6425, STHAG6, LTBP3, ENSG00000168056
NM_001130144.2
[CDS]
Reportable
hgvs_c: NM_001130144.2:c.1550C>T
reference AA: P
variant AA: L
reference codon: cCg
variant codon: cTg
cDNA pos: 1819
CDS pos: 1550
translation impact: non_synonymous
protein sequence:
NP_001123616.1
AA pos: 517
hgvs_p: NP_001123616.1:p.Pro517Leu
blosum: -3
SIFT: deleterious (0.03)
PolyPhen2: benign (0.029)
NM_001164266.1
[CDS]
hgvs_c: NM_001164266.1:c.1199C>T
reference AA: P
variant AA: L
reference codon: cCg
variant codon: cTg
cDNA pos: 1815
CDS pos: 1199
translation impact: non_synonymous
protein sequence:
NP_001157738.1
AA pos: 400
hgvs_p: NP_001157738.1:p.Pro400Leu
blosum: -3
NM_021070.4
[CDS]
hgvs_c: NM_021070.4:c.1550C>T
reference AA: P
variant AA: L
reference codon: cCg
variant codon: cTg
cDNA pos: 1819
CDS pos: 1550
translation impact: non_synonymous
protein sequence:
NP_066548.2
AA pos: 517
hgvs_p: NP_066548.2:p.Pro517Leu
blosum: -3
SIFT: deleterious (0.02)
PolyPhen2: benign (0.031)
dbSNP
rs145001056
GMAF = 0.0001997
TOPMED_MAF = 0.00011945718654434
ClinVar
235669
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_submission_scv = SCV000281431.1
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000233,0.000000,0.000154
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 10266 |
0% |
| America/Latino |
1 / 11524 |
0.00868% |
| East Asian |
3 / 8634 |
0.0347% |
| Finnish |
0 / 6412 |
0% |
| Non-Finnish |
9 / 66050 |
0.0136% |
| Other |
0 / 884 |
0% |
| South Asian |
27 / 16444 |
0.164% |
| Total MAF |
40 / 120214 |
0.0333% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
2 / 23990 |
0.00834% |
| America/Latino |
6 / 34414 |
0.0174% |
| Ashkenazi Jewish |
0 / 10138 |
0% |
| East Asian |
4 / 18866 |
0.0212% |
| Finnish |
0 / 25724 |
0% |
| Non-Finnish |
10 / 126324 |
0.00792% |
| Other |
0 / 6450 |
0% |
| South Asian |
41 / 30778 |
0.133% |
| Total MAF |
63 / 276684 |
0.0228% |
Export Variant