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dbVar

Database of genomic structural variation

nsv3874725

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:35,324

Description:
NM_000251.2(MSH2):c.1277-?_2634+?del AND Lynch syndrome
Publication(s):ACMG Board of Directors et al. 2014, Church et al. 2001, Giardiello et al. 2014, Goggins et al. 2020, Goldberg et al. 2019, Green et al. 2013, Hegde et al. 2013, Kalia et al. 2016, Kohlmann et al. 2004, Lu et al. 2014, Menko et al. 2013, Mork et al. 2015, No authors et al. 2020, No authors et al. 2021, No authors et al. 2021, Robson et al. 2015, Seppälä et al. 2021, Stoffel et al. 2014, Syngal et al. 2015, Trepanier et al. 2004, Vasen et al. 2013

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 213 SVs from 31 studies. See in: genome view

Submitted genomic47,445,548-47,480,871

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3874725	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	47,445,548	47,480,871
nsv3874725	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	47,672,687	47,708,010

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15129922	deletion	Multiple	Multiple	Lynch Syndrome; Lynch syndrome	Pathogenic	ClinVar	RCV000477663.1, VCV000417806.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15129922	Submitted genomic		NC_000002.12:g.(?_ 47445548)_(4748087 1_?)del	GRCh38 (hg38)		NC_000002.12	Chr2	47,445,548	47,480,871
nssv15129922	Remapped	Perfect	NC_000002.11:g.(?_ 47672687)_(4770801 0_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	47,672,687	47,708,010

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15129922	GRCh38: NC_000002.12:g.(?_47445548)_(47480871_?)del	deletion	germline	Lynch Syndrome; Lynch syndrome	Pathogenic	ClinVar	RCV000477663.1, VCV000417806.1

No genotype data were submitted for this variant

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