chr5:112175240:G>C Detail (hg19) (APC)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr5:112,175,240-112,175,240
hg38	chr5:112,839,543-112,839,543 View the variant detail on this assembly version.

HGVS

Type	Transcript	Protein
RefSeq	NM_000038.5:c.3949G>C	NP_000029.2:p.Glu1317Gln
	NM_001127511.2:c.3895G>C	NP_001120983.2:p.Glu1299Gln
	NM_001127510.2:c.3949G>C	NP_001120982.1:p.Glu1317Gln
Ensemble	ENST00000257430.9:c.3949G>C	ENST00000257430.9:p.Glu1317Gln
	ENST00000504915.3:c.4003G>C	ENST00000504915.3:p.Glu1335Gln
	ENST00000507379.6:c.3895G>C	ENST00000507379.6:p.Glu1299Gln
	ENST00000508376.6:c.3949G>C	ENST00000508376.6:p.Glu1317Gln
	ENST00000509732.6:c.3949G>C	ENST00000509732.6:p.Glu1317Gln
	ENST00000512211.7:c.3949G>C	ENST00000512211.7:p.Glu1317Gln
	ENST00000713638.1:c.*1931G>C
	ENST00000713639.1:c.3631G>C	ENST00000713639.1:p.Glu1211Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

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

Prediction

ClinVar

Clinical Significance	Benign Likely 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
	COSMIC	COSM19099	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign Likely benign	2023-08-22	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail
Benign Likely benign	2024-04-01	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Benign Likely benign	2023-08-15	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Benign	2018-03-06	criteria provided, single submitter	APC-Associated Polyposis Disorders	germline	Detail
Benign Likely benign	2023-06-02	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Benign		no assertion criteria provided	Carcinoma of colon	unknown	Detail
not provided		no assertion provided	familial adenomatous polyposis 1	unknown	Detail
Benign	2024-02-01	criteria provided, single submitter	familial adenomatous polyposis 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.120	Polyposis, Adenomatous Intestinal	NA	CLINVAR		Detail
0.076	colorectal carcinoma	To this end, sequence analysis was carried out of the APC gene in order to ident...	BeFree	11267860	Detail
0.076	colorectal carcinoma	This study seeks to determine whether there is any association of the I1307K, E1...	BeFree	18343606	Detail
0.241	Colorectal Neoplasms	The APC variants I1307K and E1317Q are associated with colorectal tumors, but no...	BeFree	9724771	Detail
0.139	Adenoma of large intestine	The APC I1307K and E1317Q variants predispose to colorectal adenomas and carcino...	BeFree	15266213	Detail
0.240	colorectal cancer	This study seeks to determine whether there is any association of the I1307K, E1...	BeFree	18343606	Detail
0.240	colorectal cancer	Two APC germline mutations, E1317Q and I1307K, have been linked to colorectal ca...	BeFree	15929773	Detail
0.076	colorectal carcinoma	Two APC germline mutations, E1317Q and I1307K, have been linked to colorectal ca...	BeFree	15929773	Detail
0.240	colorectal cancer	To this end, sequence analysis was carried out of the APC gene in order to ident...	BeFree	11267860	Detail
0.139	Adenoma of large intestine	The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mecha...	BeFree	19701947	Detail
0.127	Adenomatous Polyps	The APC E1317Q variant in adenomatous polyps and colorectal cancers.	BeFree	14578138	Detail
0.139	Adenoma of large intestine	The APC E1317Q variant is associated with colorectal neoplasia, particularly col...	BeFree	19474113	Detail
0.191	adenoma	In the present study, 608 cases (377 patients with CRC, 145 patients with 4-100 ...	BeFree	14578138	Detail
0.240	colorectal cancer	The APC E1317Q variant in adenomatous polyps and colorectal cancers.	BeFree	14578138	Detail
0.777	Adenomatous Polyposis Coli	Reports of the risk of colorectal neoplasia associated with a variant of the ade...	BeFree	19474113	Detail
0.139	Adenoma of large intestine	Germline APC variants in patients with multiple colorectal adenomas, with eviden...	BeFree	11001924	Detail
0.047	Carcinogenesis	These data support a novel mechanism in which p.Glu1317Gln in combination with o...	BeFree	19701947	Detail
0.139	Adenoma of large intestine	Prevalence of the E1317Q variant of the APC gene in Italian patients with colore...	BeFree	12537656	Detail
0.007	FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)	We compared the patterns of somatic APC mutations in tumors from patients with a...	BeFree	19701947	Detail
0.004	Hyperplastic Polyp	Four patients had a germ-line E1317Q missense variant of APC that was not presen...	BeFree	9724771	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) AND not specified	ClinVar	Detail
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) AND APC-Associated Polyposis Disorders	ClinVar	Detail
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) AND Carcinoma of colon	ClinVar	Detail
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) AND Familial adenomatous polyposis 1	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
To this end, sequence analysis was carried out of the APC gene in order to identify any I1307K and E...	DisGeNET	Detail
This study seeks to determine whether there is any association of the I1307K, E1317Q and D1822V vari...	DisGeNET	Detail
The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a fami...	DisGeNET	Detail
The APC I1307K and E1317Q variants predispose to colorectal adenomas and carcinomas in Caucasians, b...	DisGeNET	Detail
This study seeks to determine whether there is any association of the I1307K, E1317Q and D1822V vari...	DisGeNET	Detail
Two APC germline mutations, E1317Q and I1307K, have been linked to colorectal cancer (CRC) risk.	DisGeNET	Detail
Two APC germline mutations, E1317Q and I1307K, have been linked to colorectal cancer (CRC) risk.	DisGeNET	Detail
To this end, sequence analysis was carried out of the APC gene in order to identify any I1307K and E...	DisGeNET	Detail
The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the...	DisGeNET	Detail
The APC E1317Q variant in adenomatous polyps and colorectal cancers.	DisGeNET	Detail
The APC E1317Q variant is associated with colorectal neoplasia, particularly colorectal adenomas, bu...	DisGeNET	Detail
In the present study, 608 cases (377 patients with CRC, 145 patients with 4-100 lifetime adenomas, a...	DisGeNET	Detail
The APC E1317Q variant in adenomatous polyps and colorectal cancers.	DisGeNET	Detail
Reports of the risk of colorectal neoplasia associated with a variant of the adenomatous polyposis c...	DisGeNET	Detail
Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particula...	DisGeNET	Detail
These data support a novel mechanism in which p.Glu1317Gln in combination with other weak mutant APC...	DisGeNET	Detail
Prevalence of the E1317Q variant of the APC gene in Italian patients with colorectal adenomas.	DisGeNET	Detail
We compared the patterns of somatic APC mutations in tumors from patients with attenuated familial a...	DisGeNET	Detail
Four patients had a germ-line E1317Q missense variant of APC that was not present in controls; one o...	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: rs1801166 dbSNP
Genome: hg19
Position: chr5:112,175,240-112,175,240
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8630
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121152
Allele Counts in All Race (ExAC): 500
Heterozygous Counts in All Race (ExAC): 488
Homozygous Counts in All Race (ExAC): 6
Allele Frequency in All Race (ExAC): 0.004127047015319599

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