Classification
Category 3
non_synonymous
CMH MAF
2 /
13843 samples
(0.0144%)
2 het.,
0 hom.
(100%)
2 /
27686 total alleles
(0.00722%)
Genes
gene: LMNA
synonym(s): CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, PRO1, LMNA, ENSG00000160789
NM_001257374.1
[CDS]
hgvs_c: NM_001257374.1:c.1537A>C
reference AA: S
variant AA: R
reference codon: Agc
variant codon: Cgc
cDNA pos: 1581
CDS pos: 1537
translation impact: non_synonymous
protein sequence:
NP_001244303.1
AA pos: 513
hgvs_p: NP_001244303.1:p.Ser513Arg
blosum: -1
SIFT: tolerated_low_confidence (0.06)
PolyPhen2: benign (0.198)
NM_170707.3
[CDS]
Reportable
hgvs_c: NM_170707.3:c.1873A>C
reference AA: S
variant AA: R
reference codon: Agc
variant codon: Cgc
cDNA pos: 2122
CDS pos: 1873
translation impact: non_synonymous
protein sequence:
NP_733821.1
AA pos: 625
hgvs_p: NP_733821.1:p.Ser625Arg
blosum: -1
SIFT: tolerated_low_confidence (0.08)
PolyPhen2: benign (0.216)
NM_170708.3
[CDS]
hgvs_c: NM_170708.3:c.1783A>C
reference AA: S
variant AA: R
reference codon: Agc
variant codon: Cgc
cDNA pos: 2032
CDS pos: 1783
translation impact: non_synonymous
protein sequence:
NP_733822.1
AA pos: 595
hgvs_p: NP_733822.1:p.Ser595Arg
blosum: -1
SIFT: tolerated_low_confidence (0.11)
PolyPhen2: possibly_damaging (0.571)
dbSNP
rs398124550
GMAF = 0.0001997
TOPMED_MAF = 0.00007167431192660
ClinVar
96530
clinvar_significance = Uncertain_significance
518817
clinvar_significance = Uncertain_significance
clinvar_disease = Charcot-Marie-Tooth disease
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
3 / 9368 |
0.032% |
| America/Latino |
0 / 11184 |
0% |
| East Asian |
0 / 8492 |
0% |
| Finnish |
0 / 5696 |
0% |
| Non-Finnish |
0 / 62548 |
0% |
| Other |
0 / 836 |
0% |
| South Asian |
0 / 16172 |
0% |
| Total MAF |
3 / 114296 |
0.00262% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
8 / 24566 |
0.0326% |
| America/Latino |
2 / 35322 |
0.00566% |
| Ashkenazi Jewish |
0 / 10298 |
0% |
| East Asian |
0 / 19892 |
0% |
| Finnish |
0 / 24852 |
0% |
| Non-Finnish |
0 / 127300 |
0% |
| Other |
0 / 7172 |
0% |
| South Asian |
0 / 30576 |
0% |
| Korean |
0 / 3808 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14372 |
0% |
| Bulgarian |
0 / 2474 |
0% |
| Estonian |
0 / 4808 |
0% |
| North-Western European |
0 / 50146 |
0% |
| Southern European |
0 / 11482 |
0% |
| Swedish |
0 / 25950 |
0% |
| Other non-Finnish European |
0 / 32440 |
0% |
| Total MAF |
10 / 279978 |
0.00357% |
Export Variant