chr7:92001306:G>T Detail (hg38) (AKAP9)

Information

Genome

Assembly Position
hg19 chr7:91,630,620-91,630,620 View the variant detail on this assembly version.
hg38 chr7:92,001,306-92,001,306

HGVS

Type Transcript Protein
RefSeq NM_005751.4:c.1389G>T NP_005742.4:p.Met463Ile
NM_147185.2:c.1389G>T NP_671714.1:p.Met463Ile
Ensemble ENST00000356239.8:c.1389G>T ENST00000356239.8:p.Met463Ile
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.204
ToMMo:0.195
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.174

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 604001 OMIM
HGNC 379 HGNC
Ensembl ENSG00000127914 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv30100625 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000140) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-08-12 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2013-06-24 criteria provided, single submitter colorectal cancer unknown Detail
Benign 2015-03-23 criteria provided, single submitter germline Detail
Benign 2024-02-01 criteria provided, single submitter long QT syndrome germline Detail
Benign 2023-11-29 criteria provided, multiple submitters, no conflicts long QT syndrome 11 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.007 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.002 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.082 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.160 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
0.003 colorectal cancer Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 colorectal carcinoma Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... BeFree 18619730 Detail
<0.001 breast carcinoma Using the Breast Cancer Association Consortium, the authors previously reported ... BeFree 21931171 Detail
<0.001 colorectal carcinoma One SNP AKAP9 M463I remained significantly associated with CRC risk after string... BeFree 17000706 Detail
0.003 Malignant neoplasm of breast Using the Breast Cancer Association Consortium, the authors previously reported ... BeFree 21931171 Detail
0.003 colorectal cancer One SNP AKAP9 M463I remained significantly associated with CRC risk after string... BeFree 17000706 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile) AND not specified ClinVar Detail
NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile) AND Colorectal cancer ClinVar Detail
NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile) AND Cardiovascular phenotype ClinVar Detail
NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile) AND Long QT syndrome ClinVar Detail
NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile) AND Long QT syndrome 11 ClinVar Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... DisGeNET Detail
Using the Breast Cancer Association Consortium, the authors previously reported that the single nucl... DisGeNET Detail
One SNP AKAP9 M463I remained significantly associated with CRC risk after stringent adjustment for m... DisGeNET Detail
Using the Breast Cancer Association Consortium, the authors previously reported that the single nucl... DisGeNET Detail
One SNP AKAP9 M463I remained significantly associated with CRC risk after stringent adjustment for m... 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
rs6964587 dbSNP
Genome
hg38
Position
chr7:92,001,306-92,001,306
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
82.45
Standard deviation of sample read depth (HGVD)
45.50
Number of reference allele (HGVD)
1924
Number of alternative allele (HGVD)
494
Allele Frequency (HGVD)
0.20430107526881722
Gene Symbol (HGVD)
AKAP9
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))
rs6964587
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.195
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3267
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8626
East Asian Allele Counts (ExAC)
1505
East Asian Heterozygous Counts (ExAC)
1247
East Asian Homozygous Counts (ExAC)
129
East Asian Allele Frequency (ExAC)
0.1744725249246464
Chromosome Counts in All Race (ExAC)
120826
Allele Counts in All Race (ExAC)
46264
Heterozygous Counts in All Race (ExAC)
27912
Homozygous Counts in All Race (ExAC)
9176
Allele Frequency in All Race (ExAC)
0.38289772068925565
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