chr7:92085597:C>T Detail (hg38) (CYP51A1, AKAP9)

Information

Genome

Assembly Position
hg19 chr7:91,714,911-91,714,911 View the variant detail on this assembly version.
hg38 chr7:92,085,597-92,085,597

HGVS

Type Transcript Protein
RefSeq NM_005751.4:c.8935C>T NP_005742.4:p.Pro2979Ser
NM_147185.2:c.8935C>T NP_671714.1:p.Pro2979Ser
Ensemble ENST00000356239.8:c.8935C>T ENST00000356239.8:p.Pro2979Ser
Type Transcript Protein
RefSeq
Ensemble ENST00000691309.1:c.1357G>A ENST00000691309.1:p.Val453Ile
Summary

MGeND

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

Frequency

JP HGVD:1.000
ToMMo:1.000
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:1.000

Prediction

ClinVar

Clinical Significance Benign Likely 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 tgv30103852 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 601637 OMIM
HGNC 2649 HGNC
Ensembl ENSG00000001630 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv30103852 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
Likely benign 2013-06-24 criteria provided, single submitter not provided unknown Detail
Benign 2015-03-09 criteria provided, single submitter germline Detail
Likely benign 2016-06-14 criteria provided, single submitter Congenital long QT syndrome germline Detail
Benign 2024-02-01 criteria provided, single submitter long QT syndrome germline Detail
Benign 2021-12-05 criteria provided, single submitter long QT syndrome 11 germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) AND not specified ClinVar Detail
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) AND not provided ClinVar Detail
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) AND Cardiovascular phenotype ClinVar Detail
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) AND Congenital long QT syndrome ClinVar Detail
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) AND Long QT syndrome ClinVar Detail
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) AND Long QT syndrome 11 ClinVar 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
rs1063242 dbSNP
Genome
hg38
Position
chr7:92,085,597-92,085,597
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1207
Mean of sample read depth (HGVD)
29.73
Standard deviation of sample read depth (HGVD)
13.95
Number of reference allele (HGVD)
0
Number of alternative allele (HGVD)
2414
Allele Frequency (HGVD)
1.0
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))
rs1063242
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
8648
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
4324
East Asian Allele Frequency (ExAC)
1.0
Chromosome Counts in All Race (ExAC)
121348
Allele Counts in All Race (ExAC)
120887
Heterozygous Counts in All Race (ExAC)
455
Homozygous Counts in All Race (ExAC)
60216
Allele Frequency in All Race (ExAC)
0.9962010086692817
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