chr14:104773557:C>T Detail (hg38) (AKT1)

Information

Genome

Assembly Position
hg19 chr14:105,239,894-105,239,894 View the variant detail on this assembly version.
hg38 chr14:104,773,557-104,773,557

HGVS

Type Transcript Protein
RefSeq NM_001014431.1:c.726G>A NP_001014431.1:p.Glu242=
NM_001014432.1:c.726G>A NP_001014432.1:p.Glu242=
NM_005163.2:c.726G>A NP_005154.2:p.Glu242=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.479
ToMMo:0.474
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.587

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 164730 OMIM
HGNC 391 HGNC
Ensembl ENSG00000142208 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv52082894 TogoVar
COSMIC COSM3765730 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2017-01-06 criteria provided, single submitter not specified germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts Cowden syndrome 6 germline unknown Detail
Benign 2019-01-10 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 pancreatic ductal adenocarcinoma Here we investigated the prognostic value and association of SELP-rs6136, IL6-rs... BeFree 25238546 Detail
0.137 Cachexia Here we investigated the prognostic value and association of SELP-rs6136, IL6-rs... BeFree 25238546 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001382430.1(AKT1):c.726G>A (p.Glu242=) AND not specified ClinVar Detail
NM_001382430.1(AKT1):c.726G>A (p.Glu242=) AND Cowden syndrome 6 ClinVar Detail
NM_001382430.1(AKT1):c.726G>A (p.Glu242=) AND not provided ClinVar Detail
Here we investigated the prognostic value and association of SELP-rs6136, IL6-rs1800796 and AKT1-rs1... DisGeNET Detail
Here we investigated the prognostic value and association of SELP-rs6136, IL6-rs1800796 and AKT1-rs1... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1130233 dbSNP
Genome
hg38
Position
chr14:104,773,557-104,773,557
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1205
Mean of sample read depth (HGVD)
101.52
Standard deviation of sample read depth (HGVD)
52.40
Number of reference allele (HGVD)
1255
Number of alternative allele (HGVD)
1155
Allele Frequency (HGVD)
0.47925311203319504
Gene Symbol (HGVD)
AKT1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1130233
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4739
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7942
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
7370
East Asian Allele Counts (ExAC)
4328
East Asian Heterozygous Counts (ExAC)
1840
East Asian Homozygous Counts (ExAC)
1244
East Asian Allele Frequency (ExAC)
0.5872455902306648
Chromosome Counts in All Race (ExAC)
97204
Allele Counts in All Race (ExAC)
30535
Heterozygous Counts in All Race (ExAC)
20615
Homozygous Counts in All Race (ExAC)
4960
Allele Frequency in All Race (ExAC)
0.31413316324431095
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