NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 28, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000202173.14

Allele description [Variation Report for NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs)]

NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs)

HGVS:

NC_000002.12:g.47806256_47806259dup
NG_007111.1:g.28110_28113dup
NG_008397.1:g.104419_104422dup
NM_000179.3:c.3699_3702dupMANE SELECT
NM_001281492.2:c.3309_3312dup
NM_001281493.2:c.2793_2796dup
NM_001281494.2:c.2793_2796dup
NP_000170.1:p.Leu1235fs
NP_000170.1:p.Leu1235fs
NP_001268421.1:p.Leu1105fs
NP_001268422.1:p.Leu933fs
NP_001268423.1:p.Leu933fs
LRG_219t1:c.3699_3702dup
LRG_219:g.28110_28113dup
LRG_219p1:p.Leu1235fs
NC_000002.11:g.48033392_48033393insAAAG
NC_000002.11:g.48033395_48033398dup
NM_000179.2:c.3699_3702dup
NM_000179.2:c.3699_3702dupAGAA

Protein change:

L1105fs

Links:

dbSNP: rs193922343

NCBI 1000 Genomes Browser:

rs193922343

Molecular consequence:

NM_000179.3:c.3699_3702dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281492.2:c.3309_3312dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281493.2:c.2793_2796dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281494.2:c.2793_2796dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000257274	Mayo Clinic Laboratories, Mayo Clinic	no assertion criteria provided	Likely pathogenic	unknown	research
SCV005333661	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Mar 28, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000257274

Mayo Clinic Laboratories, Mayo Clinic

no assertion criteria provided

Likely pathogenic

unknown

research

SCV005333661

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Mar 28, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	1	not provided	not provided	not provided	not provided	research

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000257274.1

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

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

From GeneDx, SCV005333661.1

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24689082)

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

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine