chr2:48028053:C>G Detail (hg19) (MSH6, FBXO11)

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

Information

Genome

Assembly	Position
hg19	chr2:48,028,053-48,028,053
hg38	chr2:47,800,914-47,800,914 View the variant detail on this assembly version.

HGVS

FBXO11
MSH6

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000405808.5:c.169+7281G>C

Type	Transcript	Protein
RefSeq	NM_000179.2:c.2931C>G	NP_000170.1:p.Tyr977Ter
	NM_001281492.1:c.2541C>G	NP_001268421.1:p.Tyr847Ter
Ensemble	ENST00000234420.11:c.2931C>G	ENST00000234420.11:p.Tyr977Ter
	ENST00000411819.2:c.2634C>G	ENST00000411819.2:p.Tyr878Ter
	ENST00000420813.6:c.2634C>G	ENST00000420813.6:p.Tyr878Ter
	ENST00000455383.6:c.2634C>G	ENST00000455383.6:p.Tyr878Ter
	ENST00000540021.6:c.2541C>G	ENST00000540021.6:p.Tyr847Ter
	ENST00000652107.1:c.2634C>G	ENST00000652107.1:p.Tyr878Ter
	ENST00000673637.1:c.2634C>G	ENST00000673637.1:p.Tyr878Ter
	ENST00000700000.1:c.1606+1325C>G
	ENST00000700002.1:c.2937C>G	ENST00000700002.1:p.Tyr979Ter
	ENST00000700004.2:c.2931C>G	ENST00000700004.2:p.Tyr977Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

FBXO11
MSH6

Type	Database	ID	Link
Gene	MIM	607871	OMIM
	HGNC	13590	HGNC
	Ensembl	ENSG00000138081	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM	600678	OMIM
	HGNC	7329	HGNC
	Ensembl	ENSG00000116062	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
Pathogenic	2013-09-05	reviewed by expert panel	Lynch syndrome	germline	Detail
Pathogenic	2024-02-20	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2019-10-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
not provided		no assertion provided	Lynch syndrome 1	germline	Detail
Pathogenic	2022-03-03	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Pathogenic	2023-08-21	criteria provided, single submitter	Lynch syndrome 5	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.277	Hereditary Nonpolyposis Colorectal Cancer	NA	CLINVAR		Detail
0.002	uterine corpus cancer	Unselected Jewish women with EC who were diagnosed from January 1982 to January ...	BeFree	20850175	Detail
0.012	Malignant neoplasm of endometrium	Unselected Jewish women with EC who were diagnosed from January 1982 to January ...	BeFree	20850175	Detail
0.143	endometrial carcinoma	Unselected Jewish women with EC who were diagnosed from January 1982 to January ...	BeFree	20850175	Detail
0.012	uterine corpus cancer	Unselected Jewish women with EC who were diagnosed from January 1982 to January ...	BeFree	20850175	Detail
0.031	endometrial carcinoma	Unselected Jewish women with EC who were diagnosed from January 1982 to January ...	BeFree	20850175	Detail
0.002	endometrial carcinoma	Unselected Jewish women with EC who were diagnosed from January 1982 to January ...	BeFree	20850175	Detail
0.009	uterine corpus cancer	Unselected Jewish women with EC who were diagnosed from January 1982 to January ...	BeFree	20850175	Detail
0.009	Malignant neoplasm of endometrium	Unselected Jewish women with EC who were diagnosed from January 1982 to January ...	BeFree	20850175	Detail
0.002	Malignant neoplasm of endometrium	Unselected Jewish women with EC who were diagnosed from January 1982 to January ...	BeFree	20850175	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter) AND Lynch syndrome	ClinVar	Detail
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter) AND not provided	ClinVar	Detail
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter) AND Lynch syndrome 1	ClinVar	Detail
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter) AND Lynch syndrome 5	ClinVar	Detail
NA	DisGeNET	Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ...	DisGeNET	Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ...	DisGeNET	Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ...	DisGeNET	Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ...	DisGeNET	Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ...	DisGeNET	Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ...	DisGeNET	Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ...	DisGeNET	Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ...	DisGeNET	Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ...	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: rs63750111 dbSNP
Genome: hg19
Position: chr2:48,028,053-48,028,053
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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