chr5:112178795:G>A Detail (hg19) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,178,795-112,178,795
hg38 chr5:112,843,098-112,843,098 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000038.5:c.7504G>A NP_000029.2:p.Gly2502Ser
NM_001127511.2:c.7450G>A NP_001120983.2:p.Gly2484Ser
NM_001127510.2:c.7504G>A NP_001120982.1:p.Gly2502Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 611731 OMIM
HGNC 583 HGNC
Ensembl ENSG00000134982 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv22332372 TogoVar
COSMIC COSM5618425 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2023-08-15 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign 2022-09-08 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign 2015-08-07 criteria provided, single submitter Familial multiple polyposis syndrome unknown Detail
Benign 2018-01-13 criteria provided, single submitter APC-Associated Polyposis Disorders germline Detail
Benign no assertion criteria provided Carcinoma of colon unknown Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts familial adenomatous polyposis 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.191 adenoma APC Asp1822Val and Gly2502Ser polymorphisms and risk of colorectal cancer and ad... BeFree 15824157 Detail
0.240 colorectal cancer APC Asp1822Val and Gly2502Ser polymorphisms and risk of colorectal cancer and ad... BeFree 15824157 Detail
0.076 colorectal carcinoma APC Asp1822Val and Gly2502Ser polymorphisms and risk of colorectal cancer and ad... BeFree 15824157 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) AND not provided ClinVar Detail
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) AND not specified ClinVar Detail
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) AND Familial multiple polyposis syndrome ClinVar Detail
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) AND APC-Associated Polyposis Disorders ClinVar Detail
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) AND Carcinoma of colon ClinVar Detail
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) AND Familial adenomatous polyposis 1 ClinVar Detail
APC Asp1822Val and Gly2502Ser polymorphisms and risk of colorectal cancer and adenoma. DisGeNET Detail
APC Asp1822Val and Gly2502Ser polymorphisms and risk of colorectal cancer and adenoma. DisGeNET Detail
APC Asp1822Val and Gly2502Ser polymorphisms and risk of colorectal cancer and adenoma. 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
rs2229995 dbSNP
Genome
hg19
Position
chr5:112,178,795-112,178,795
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Allele Frequency (ExAC)
0.0
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))
rs2229995
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
Chromosome Counts in All Race (ExAC)
121360
Allele Counts in All Race (ExAC)
2410
Heterozygous Counts in All Race (ExAC)
2356
Homozygous Counts in All Race (ExAC)
27
Allele Frequency in All Race (ExAC)
0.019858272907053394
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