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dbVar

Database of genomic structural variation

nsv1398118

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:delins
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:14,332

Description:NM_000249.3(MLH1):c.117-707_545+1338delinsTCCC
GGGTTCAAGCGATTCT 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: 78 SVs from 23 studies. See in: genome view

Submitted genomic36,995,912-37,010,243

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv1398118	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000003.12	Chr3	36,995,912	37,010,243
nsv1398118	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000003.11	Chr3	37,037,403	37,051,734

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv8639469	delins	Multiple	Multiple	Lynch Syndrome; Lynch syndrome	Pathogenic	ClinVar	RCV000075139.3, VCV000089667.2

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv8639469	Submitted genomic	NC_000003.12:g.369 95912_37010243deli nsTCCCGGGTTCAAGCGA TTCT	GRCh38 (hg38)	NC_000003.12	Chr3	36,995,912	37,010,243
nssv8639469	Submitted genomic	NC_000003.11:g.370 37403_37051734deli nsTCCCGGGTTCAAGCGA TTCT	GRCh37 (hg19)	NC_000003.11	Chr3	37,037,403	37,051,734

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
nssv8639469	GRCh37: NC_000003.11:g.37037403_37051734delinsTCCCGGGTTCAAGCGATTCT, GRCh38: NC_000003.12:g.36995912_37010243delinsTCCCGGGTTCAAGCGATTCT	delins	germline	Lynch Syndrome; Lynch syndrome	Pathogenic	ClinVar	RCV000075139.3, VCV000089667.2

No genotype data were submitted for this variant

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