Classification
Category 3
curation
CMH MAF
5 /
13144 samples
(0.038%)
5 het.,
0 hom.
(100%)
5 /
26288 total alleles
(0.019%)
Genes
gene: TNNT2
synonym(s): CMH2, CMPD2, cTnT, LVNC6, RCM3, TnTC, TNNT2, ENSG00000118194
NM_000364.3
[CDS]
hgvs_c: NM_000364.3:c.260C>T
reference AA: P
variant AA: L
reference codon: cCc
variant codon: cTc
cDNA pos: 352
CDS pos: 260
translation impact: non_synonymous
protein sequence:
NP_000355.2
AA pos: 87
hgvs_p: NP_000355.2:p.Pro87Leu
blosum: -3
NM_001001430.2
[CDS]
Reportable
hgvs_c: NM_001001430.2:c.230C>T
reference AA: P
variant AA: L
reference codon: cCc
variant codon: cTc
cDNA pos: 322
CDS pos: 230
translation impact: non_synonymous
protein sequence:
NP_001001430.1
AA pos: 77
hgvs_p: NP_001001430.1:p.Pro77Leu
blosum: -3
SIFT: deleterious (0.02)
PolyPhen2: probably_damaging (0.999)
NM_001001431.2
[CDS]
hgvs_c: NM_001001431.2:c.230C>T
reference AA: P
variant AA: L
reference codon: cCc
variant codon: cTc
cDNA pos: 322
CDS pos: 230
translation impact: non_synonymous
protein sequence:
NP_001001431.1
AA pos: 77
hgvs_p: NP_001001431.1:p.Pro77Leu
blosum: -3
SIFT: deleterious (0.02)
PolyPhen2: benign (0.126)
NM_001001432.2
[CDS]
hgvs_c: NM_001001432.2:c.215C>T
reference AA: P
variant AA: L
reference codon: cCc
variant codon: cTc
cDNA pos: 307
CDS pos: 215
translation impact: non_synonymous
protein sequence:
NP_001001432.1
AA pos: 72
hgvs_p: NP_001001432.1:p.Pro72Leu
blosum: -3
SIFT: deleterious (0.02)
PolyPhen2: benign (0.248)
NM_001276345.1
[CDS]
hgvs_c: NM_001276345.1:c.260C>T
reference AA: P
variant AA: L
reference codon: cCc
variant codon: cTc
cDNA pos: 352
CDS pos: 260
translation impact: non_synonymous
protein sequence:
NP_001263274.1
AA pos: 87
hgvs_p: NP_001263274.1:p.Pro87Leu
blosum: -3
SIFT: deleterious (0.02)
PolyPhen2: benign (0.212)
NM_001276346.1
[CDS]
hgvs_c: NM_001276346.1:c.257C>T
reference AA: P
variant AA: L
reference codon: cCc
variant codon: cTc
cDNA pos: 349
CDS pos: 257
translation impact: non_synonymous
protein sequence:
NP_001263275.1
AA pos: 86
hgvs_p: NP_001263275.1:p.Pro86Leu
blosum: -3
SIFT: deleterious (0.05)
PolyPhen2: unknown (0.0)
NM_001276347.1
[CDS]
hgvs_c: NM_001276347.1:c.230C>T
reference AA: P
variant AA: L
reference codon: cCc
variant codon: cTc
cDNA pos: 455
CDS pos: 230
translation impact: non_synonymous
protein sequence:
NP_001263276.1
AA pos: 77
hgvs_p: NP_001263276.1:p.Pro77Leu
blosum: -3
SIFT: deleterious (0.02)
PolyPhen2: probably_damaging (0.999)
dbSNP
rs144900708
TOPMED_MAF = 0.00001592762487257
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000116,0.000000,0.000077
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 9974 |
0% |
| America/Latino |
2 / 11212 |
0.0178% |
| East Asian |
0 / 8618 |
0% |
| Finnish |
0 / 6094 |
0% |
| Non-Finnish |
2 / 65260 |
0.00306% |
| Other |
0 / 864 |
0% |
| South Asian |
0 / 15780 |
0% |
| Total MAF |
4 / 117802 |
0.0034% |
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 16206 |
0% |
| America/Latino |
6 / 34540 |
0.0174% |
| Ashkenazi Jewish |
0 / 10076 |
0% |
| East Asian |
0 / 18390 |
0% |
| Finnish |
0 / 21584 |
0% |
| Non-Finnish |
3 / 113624 |
0.00264% |
| Other |
1 / 6132 |
0.0163% |
| South Asian |
0 / 30558 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14420 |
0% |
| Bulgarian |
0 / 2668 |
0% |
| Estonian |
0 / 242 |
0% |
| North-Western European |
0 / 42170 |
0% |
| Southern European |
2 / 11496 |
0.0174% |
| Swedish |
0 / 26104 |
0% |
| Other non-Finnish European |
1 / 30944 |
0.00323% |
| Total MAF |
10 / 251110 |
0.00398% |
curated_classification = 3
Export Variant