chr5:112754960:C>T Detail (hg38) (APC)

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

Information

Genome

Assembly	Position
hg19	chr5:112,090,657-112,090,657 View the variant detail on this assembly version.
hg38	chr5:112,754,960-112,754,960

HGVS

Type	Transcript	Protein
RefSeq	NM_000038.5:c.70C>T	NP_000029.2:p.Arg24Ter
	NM_001127511.2:c.166-11366C>T
	NM_001127510.2:c.70C>T	NP_001120982.1:p.Arg24Ter
Ensemble	ENST00000257430.9:c.70C>T	ENST00000257430.9:p.Arg24Ter
	ENST00000504915.3:c.70C>T	ENST00000504915.3:p.Arg24Ter
	ENST00000507379.6:c.166-11366C>T
	ENST00000508376.6:c.70C>T	ENST00000508376.6:p.Arg24Ter
	ENST00000509732.6:c.70C>T	ENST00000509732.6:p.Arg24Ter
	ENST00000512211.7:c.70C>T	ENST00000512211.7:p.Arg24Ter
	ENST00000713638.1:c.70C>T	ENST00000713638.1:p.Arg24Ter
	ENST00000713639.1:c.-42-11366C>T

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	Pathogenic Likely pathogenic
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	COSM5466249	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2023-09-08	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic Likely pathogenic	2023-09-23	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail
Pathogenic	2022-09-20	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2017-01-12	criteria provided, single submitter	not specified	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,familial adenomatous polyposis 1,Neoplasm of stomach,hepatocellular carcinoma,Desmoid disease, hereditary	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,familial adenomatous polyposis 1,Neoplasm of stomach,hepatocellular carcinoma,Desmoid disease, hereditary	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,familial adenomatous polyposis 1,Neoplasm of stomach,hepatocellular carcinoma,Desmoid disease, hereditary	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,familial adenomatous polyposis 1,Neoplasm of stomach,hepatocellular carcinoma,Desmoid disease, hereditary	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,familial adenomatous polyposis 1,Neoplasm of stomach,hepatocellular carcinoma,Desmoid disease, hereditary	unknown	Detail
Pathogenic	2020-03-03	criteria provided, multiple submitters, no conflicts	Familial multiple polyposis syndrome	germline	Detail
Pathogenic		no assertion criteria provided	Carcinoma of colon	unknown	Detail
Pathogenic	2021-07-01	no assertion criteria provided	Gastric cancer	germline	Detail
Pathogenic	2024-01-08	criteria provided, single submitter	familial adenomatous polyposis 1	germline	Detail
Likely pathogenic	2024-02-05	criteria provided, single submitter	Classic or attenuated familial adenomatous polyposis	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.70C>T (p.Arg24Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.70C>T (p.Arg24Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.70C>T (p.Arg24Ter) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.70C>T (p.Arg24Ter) AND not specified	ClinVar	Detail
NM_000038.6(APC):c.70C>T (p.Arg24Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.70C>T (p.Arg24Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.70C>T (p.Arg24Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.70C>T (p.Arg24Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.70C>T (p.Arg24Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.70C>T (p.Arg24Ter) AND Familial multiple polyposis syndrome	ClinVar	Detail
NM_000038.6(APC):c.70C>T (p.Arg24Ter) AND Carcinoma of colon	ClinVar	Detail
NM_000038.6(APC):c.70C>T (p.Arg24Ter) AND Gastric cancer	ClinVar	Detail
NM_000038.6(APC):c.70C>T (p.Arg24Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.70C>T (p.Arg24Ter) AND Classic or attenuated familial adenomatous polyposis	ClinVar	Detail
NA	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: rs145945630 dbSNP
Genome: hg38
Position: chr5:112,754,960-112,754,960
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8648
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): 121280
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.4736147757255936E-5

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