1:6529605-6529605 A > G

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

Consequences
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

Curation

Uncertain Significance