chr7:5973454:T>C Detail (hg38) (PMS2)

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

Genome

Assembly	Position
hg19	chr7:6,013,085-6,013,085 View the variant detail on this assembly version.
hg38	chr7:5,973,454-5,973,454

HGVS

PMS2

Type	Transcript	Protein
RefSeq	NM_000535.6:c.2534A>G	NP_000526.2:p.His845Arg
	NM_001322006.1:c.2534A>G	NP_001308935.1:p.His845Arg
	NM_001322014.1:c.2534A>G	NP_001308943.1:p.His845Arg
	NR_136154.1:c.2534A>G
Ensemble	ENST00000265849.12:c.2534A>G	ENST00000265849.12:p.His845Arg
	ENST00000382321.5:c.1331A>G	ENST00000382321.5:p.His444Arg
	ENST00000642292.1:c.2129A>G	ENST00000642292.1:p.His710Arg
	ENST00000642456.1:c.2129A>G	ENST00000642456.1:p.His710Arg
	ENST00000699752.1:c.2378A>G	ENST00000699752.1:p.His793Arg
	ENST00000699754.1:c.2336A>G	ENST00000699754.1:p.His779Arg
	ENST00000699760.1:c.2216A>G	ENST00000699760.1:p.His739Arg
	ENST00000699761.1:c.2129A>G	ENST00000699761.1:p.His710Arg
	ENST00000699762.1:c.1961A>G	ENST00000699762.1:p.His654Arg
	ENST00000699766.1:c.2567A>G	ENST00000699766.1:p.His856Arg
	ENST00000699768.1:c.2390A>G	ENST00000699768.1:p.His797Arg
	ENST00000699811.1:c.2129A>G	ENST00000699811.1:p.His710Arg
	ENST00000699818.1:c.2129A>G	ENST00000699818.1:p.His710Arg
	ENST00000699821.1:c.2162A>G	ENST00000699821.1:p.His721Arg
	ENST00000699823.1:c.2129A>G	ENST00000699823.1:p.His710Arg
	ENST00000699825.1:c.1973A>G	ENST00000699825.1:p.His658Arg
	ENST00000699827.1:c.2366A>G	ENST00000699827.1:p.His789Arg
	ENST00000699837.1:c.2129A>G	ENST00000699837.1:p.His710Arg
	ENST00000699839.1:c.2720A>G	ENST00000699839.1:p.His907Arg
	ENST00000699840.2:c.2531A>G	ENST00000699840.2:p.His844Arg
	ENST00000699930.2:c.2426A>G	ENST00000699930.2:p.His809Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
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Links

PMS2

Type	Database	ID	Link
Gene	MIM	600259	OMIM
	HGNC	9122	HGNC
	Ensembl	ENSG00000122512	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
Uncertain significance	2022-03-08	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Likely pathogenic	2022-10-11	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2017-12-28	criteria provided, single submitter	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	germline	Detail
Likely pathogenic	2023-09-25	criteria provided, single submitter	Lynch syndrome 4	unknown	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000535.7(PMS2):c.2534A>G (p.His845Arg) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000535.7(PMS2):c.2534A>G (p.His845Arg) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000535.7(PMS2):c.2534A>G (p.His845Arg) AND Diffuse pediatric-type high-grade glioma, H3-wildtype ...	ClinVar	Detail
NM_000535.7(PMS2):c.2534A>G (p.His845Arg) AND Lynch syndrome 4	ClinVar	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: rs1554292741 dbSNP
Genome: hg38
Position: chr7:5,973,454-5,973,454
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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