chr2:48030646:C>T 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	chr2:48,030,646-48,030,646
hg38	chr2:47,803,507-47,803,507 View the variant detail on this assembly version.

HGVS

FBXO11
MSH6

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000405808.5:c.169+4688G>A

Type	Transcript	Protein
RefSeq	NM_000179.2:c.3260C>T	NP_000170.1:p.Pro1087Leu
	NM_001281492.1:c.2870C>T	NP_001268421.1:p.Pro957Leu
Ensemble	ENST00000234420.11:c.3260C>T	ENST00000234420.11:p.Pro1087Leu
	ENST00000411819.2:c.2963C>T	ENST00000411819.2:p.Pro988Leu
	ENST00000420813.6:c.2963C>T	ENST00000420813.6:p.Pro988Leu
	ENST00000455383.6:c.2963C>T	ENST00000455383.6:p.Pro988Leu
	ENST00000540021.6:c.2870C>T	ENST00000540021.6:p.Pro957Leu
	ENST00000652107.1:c.2963C>T	ENST00000652107.1:p.Pro988Leu
	ENST00000673637.1:c.2963C>T	ENST00000673637.1:p.Pro988Leu
	ENST00000700000.1:c.1694C>T	ENST00000700000.1:p.Pro565Leu
	ENST00000700002.1:c.3266C>T	ENST00000700002.1:p.Pro1089Leu
	ENST00000700004.2:c.3173-2111C>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	Conflicting classifications of pathogenicity
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	COSM6475148	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	COSM6475148	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2023-05-22	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Likely benign	2023-11-27	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.277	Hereditary Nonpolyposis Colorectal Cancer	We recreated three MSH6 variants found in suspected Lynch syndrome families, MSH...	BeFree	24040339	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000179.3(MSH6):c.3260C>T (p.Pro1087Leu) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000179.3(MSH6):c.3260C>T (p.Pro1087Leu) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
We recreated three MSH6 variants found in suspected Lynch syndrome families, MSH6-P1087R, MSH6-R1095...	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: rs63750753 dbSNP
Genome: hg19
Position: chr2:48,030,646-48,030,646
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8650
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): 121364
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.647935137272997E-5

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