NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del) AND Lynch-like syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001249986.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del)]

NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del)

Gene:

MSH6:mutS homolog 6 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del)

HGVS:

NC_000002.12:g.47806281_47806283del
NG_007111.1:g.28135_28137del
NG_008397.1:g.104395_104397del
NM_000179.3:c.3724_3726delMANE SELECT
NM_001281492.2:c.3334_3336del
NM_001281493.2:c.2818_2820del
NM_001281494.2:c.2818_2820del
NP_000170.1:p.Arg1242del
NP_001268421.1:p.Arg1112del
NP_001268422.1:p.Arg940del
NP_001268423.1:p.Arg940del
LRG_219:g.28135_28137del
NC_000002.11:g.48033418_48033420del
NC_000002.11:g.48033420_48033422del
NM_000179.2:c.3724_3726delCGT
p.R1242del

Protein change:

R1112del

Links:

dbSNP: rs63749942

NCBI 1000 Genomes Browser:

rs63749942

Molecular consequence:

NM_000179.3:c.3724_3726del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001281492.2:c.3334_3336del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001281493.2:c.2818_2820del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001281494.2:c.2818_2820del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Lynch-like syndrome
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001424000	Constitutional Genetics Lab, Leon Berard Cancer Center	no assertion criteria provided	Pathogenic (Jul 1, 2019)	somatic	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001424000

Constitutional Genetics Lab, Leon Berard Cancer Center

no assertion criteria provided

Pathogenic
(Jul 1, 2019)

somatic

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Constitutional Genetics Lab, Leon Berard Cancer Center, SCV001424000.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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