NM_000179.3(MSH6):c.3577del (p.Glu1193fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 13, 2022
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:: RCV000491624.3

Allele description [Variation Report for NM_000179.3(MSH6):c.3577del (p.Glu1193fs)]

NM_000179.3(MSH6):c.3577del (p.Glu1193fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.3577del (p.Glu1193fs)

HGVS:

NC_000002.12:g.47805638del
NG_007111.1:g.27492del
NG_008397.1:g.105038del
NM_000179.3:c.3577delMANE SELECT
NM_001281492.2:c.3187del
NM_001281493.2:c.2671del
NM_001281494.2:c.2671del
NP_000170.1:p.Glu1193fs
NP_001268421.1:p.Glu1063fs
NP_001268422.1:p.Glu891fs
NP_001268423.1:p.Glu891fs
LRG_219:g.27492del
NC_000002.11:g.48032777del
NM_000179.2:c.3577delG

Protein change:

E1063fs

Links:

dbSNP: rs1114167755

NCBI 1000 Genomes Browser:

rs1114167755

Molecular consequence:

NM_000179.3:c.3577del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281492.2:c.3187del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281493.2:c.2671del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281494.2:c.2671del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000580272	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jun 13, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000580272

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jun 13, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000580272.6

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

Description

The c.3577delG pathogenic mutation, located in coding exon 7 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 3577, causing a translational frameshift with a predicted alternate stop codon (p.E1193Nfs*2). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 1, 2024

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