chr5:112111352:A>G 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	chr5:112,111,352-112,111,352
hg38	chr5:112,775,655-112,775,655 View the variant detail on this assembly version.

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.449A>G	NP_000029.2:p.Lys150Arg
	NM_001127511.2:c.479A>G	NP_001120983.2:p.Lys160Arg
	NM_001127510.2:c.449A>G	NP_001120982.1:p.Lys150Arg
Ensemble	ENST00000257430.9:c.449A>G	ENST00000257430.9:p.Lys150Arg
	ENST00000504915.3:c.449A>G	ENST00000504915.3:p.Lys150Arg
	ENST00000507379.6:c.479A>G	ENST00000507379.6:p.Lys160Arg
	ENST00000508376.6:c.449A>G	ENST00000508376.6:p.Lys150Arg
	ENST00000509732.6:c.449A>G	ENST00000509732.6:p.Lys150Arg
	ENST00000512211.7:c.449A>G	ENST00000512211.7:p.Lys150Arg
	ENST00000713638.1:c.449A>G	ENST00000713638.1:p.Lys150Arg
	ENST00000713639.1:c.272A>G	ENST00000713639.1:p.Lys91Arg

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	Conflicting classifications of pathogenicity
Review star
Show details

Links

APC

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2023-12-11	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2014-06-01	no assertion criteria provided	colorectal adenoma	germline	Detail
Conflicting interpretations of pathogenicity	2024-01-16	criteria provided, conflicting interpretations	familial adenomatous polyposis 1	germline unknown	Detail
Conflicting interpretations of pathogenicity	2024-02-06	criteria provided, conflicting interpretations	not specified	germline	Detail
Uncertain significance	2022-12-18	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	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
0.139	Adenoma of large intestine	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.449A>G (p.Lys150Arg) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.449A>G (p.Lys150Arg) AND Colorectal adenoma	ClinVar	Detail
NM_000038.6(APC):c.449A>G (p.Lys150Arg) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.449A>G (p.Lys150Arg) AND not specified	ClinVar	Detail
NM_000038.6(APC):c.449A>G (p.Lys150Arg) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.449A>G (p.Lys150Arg) AND Classic or attenuated familial adenomatous polyposis	ClinVar	Detail
NA	DisGeNET	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: rs371085910 dbSNP
Genome: hg19
Position: chr5:112,111,352-112,111,352
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8634
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): 120934
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.268973158913126E-6

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