NM_000179.3(MSH6):c.2759del (p.Lys920fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 20, 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:: RCV000491468.3

Allele description [Variation Report for NM_000179.3(MSH6):c.2759del (p.Lys920fs)]

NM_000179.3(MSH6):c.2759del (p.Lys920fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.2759del (p.Lys920fs)

HGVS:

NC_000002.12:g.47800742del
NG_007111.1:g.22596del
NM_000179.3:c.2759delMANE SELECT
NM_001281492.2:c.2369del
NM_001281493.2:c.1853del
NM_001281494.2:c.1853del
NP_000170.1:p.Lys920fs
NP_001268421.1:p.Lys790fs
NP_001268422.1:p.Lys618fs
NP_001268423.1:p.Lys618fs
LRG_219:g.22596del
NC_000002.11:g.48027878del
NC_000002.11:g.48027881del
NC_000002.12:g.47800742delA
NM_000179.2:c.2759delA

Protein change:

K618fs

Links:

dbSNP: rs1114167794

NCBI 1000 Genomes Browser:

rs1114167794

Molecular consequence:

NM_000179.3:c.2759del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281492.2:c.2369del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281493.2:c.1853del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281494.2:c.1853del - 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

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
SCV000580366	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jun 20, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000580366

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jun 20, 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, SCV000580366.6

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

Description

The c.2759delA pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 2759, causing a translational frameshift with a predicted alternate stop codon (p.K920Rfs*25).This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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: Oct 8, 2024

ClinVar

Relating variation to medicine