Classification
Category 3
five_prime_exonic
CMH MAF
11 /
14969 samples
(0.0735%)
11 het.,
0 hom.
(100%)
11 /
29938 total alleles
(0.0367%)
Genes
gene: PLEKHG5
synonym(s): DSMA4, GEF720, Syx, Tech, PLEKHG5, ENSG00000171680
NM_001042663.1
[CDS]
hgvs_c: NM_001042663.1:c.2100T>C
reference AA: P
variant AA: P
reference codon: ccT
variant codon: ccC
cDNA pos: 2201
CDS pos: 2100
splice impact: five_prime_exonic
translation impact: synonymous
protein sequence:
NP_001036128.1
AA pos: 700
hgvs_p: NP_001036128.1:p.Pro700=
blosum: 7
NM_001042664.1
[CDS]
hgvs_c: NM_001042664.1:c.1932T>C
reference AA: P
variant AA: P
reference codon: ccT
variant codon: ccC
cDNA pos: 2155
CDS pos: 1932
translation impact: synonymous
protein sequence:
NP_001036129.1
AA pos: 644
hgvs_p: NP_001036129.1:p.Pro644=
blosum: 7
NM_001042665.1
[CDS]
hgvs_c: NM_001042665.1:c.1932T>C
reference AA: P
variant AA: P
reference codon: ccT
variant codon: ccC
cDNA pos: 2138
CDS pos: 1932
translation impact: synonymous
protein sequence:
NP_001036130.1
AA pos: 644
hgvs_p: NP_001036130.1:p.Pro644=
blosum: 7
NM_001265592.1
[CDS]
hgvs_c: NM_001265592.1:c.2169T>C
reference AA: P
variant AA: P
reference codon: ccT
variant codon: ccC
cDNA pos: 2234
CDS pos: 2169
translation impact: synonymous
protein sequence:
NP_001252521.1
AA pos: 723
hgvs_p: NP_001252521.1:p.Pro723=
blosum: 7
NM_001265593.1
[CDS]
hgvs_c: NM_001265593.1:c.2139T>C
reference AA: P
variant AA: P
reference codon: ccT
variant codon: ccC
cDNA pos: 2165
CDS pos: 2139
translation impact: synonymous
protein sequence:
NP_001252522.1
AA pos: 713
hgvs_p: NP_001252522.1:p.Pro713=
blosum: 7
NM_001265594.1
[CDS]
hgvs_c: NM_001265594.1:c.1932T>C
reference AA: P
variant AA: P
reference codon: ccT
variant codon: ccC
cDNA pos: 2169
CDS pos: 1932
translation impact: synonymous
protein sequence:
NP_001252523.1
AA pos: 644
hgvs_p: NP_001252523.1:p.Pro644=
blosum: 7
NM_020631.4
[CDS]
Reportable
hgvs_c: NM_020631.4:c.1932T>C
reference AA: P
variant AA: P
reference codon: ccT
variant codon: ccC
cDNA pos: 2084
CDS pos: 1932
translation impact: synonymous
protein sequence:
NP_065682.2
AA pos: 644
hgvs_p: NP_065682.2:p.Pro644=
blosum: 7
NM_198681.3
[CDS]
hgvs_c: NM_198681.3:c.2163T>C
reference AA: P
variant AA: P
reference codon: ccT
variant codon: ccC
cDNA pos: 2713
CDS pos: 2163
translation impact: synonymous
protein sequence:
NP_941374.2
AA pos: 721
hgvs_p: NP_941374.2:p.Pro721=
blosum: 7
dbSNP
rs150807400
GMAF = 0.0003994
TOPMED_MAF = 0.00152108817533129
ClinVar
194777
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Distal spinal muscular atrophy
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000000,0.004539,0.001538
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
42 / 10362 |
0.405% |
| America/Latino |
1 / 11560 |
0.00865% |
| East Asian |
0 / 8642 |
0% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
0 / 66536 |
0% |
| Other |
0 / 904 |
0% |
| South Asian |
0 / 16506 |
0% |
| Total MAF |
43 / 121124 |
0.0355% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
120 / 24954 |
0.481% |
| America/Latino |
4 / 35434 |
0.0113% |
| Ashkenazi Jewish |
0 / 10362 |
0% |
| East Asian |
0 / 19946 |
0% |
| Finnish |
0 / 25122 |
0% |
| Non-Finnish |
1 / 129030 |
0.000775% |
| Other |
1 / 7222 |
0.0138% |
| South Asian |
0 / 30612 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14416 |
0% |
| Bulgarian |
0 / 2660 |
0% |
| Estonian |
0 / 4832 |
0% |
| North-Western European |
1 / 50750 |
0.00197% |
| Southern European |
0 / 11606 |
0% |
| Swedish |
0 / 26122 |
0% |
| Other non-Finnish European |
0 / 33060 |
0% |
| Total MAF |
126 / 282682 |
0.0446% |
Export Variant