NM_000179.3(MSH6):c.1984del (p.Gly661_Met662insTer) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 18, 2017
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:: RCV000568637.3

Allele description [Variation Report for NM_000179.3(MSH6):c.1984del (p.Gly661_Met662insTer)]

NM_000179.3(MSH6):c.1984del (p.Gly661_Met662insTer)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.1984del (p.Gly661_Met662insTer)

HGVS:

NC_000002.12:g.47799967del
NG_007111.1:g.21821del
NM_000179.3:c.1984delMANE SELECT
NM_001281492.2:c.1594del
NM_001281493.2:c.1078del
NM_001281494.2:c.1078del
NP_000170.1:p.Gly661_Met662insTer
NP_001268421.1:p.Gly531_Met532insTer
NP_001268422.1:p.Gly359_Met360insTer
NP_001268423.1:p.Gly359_Met360insTer
LRG_219:g.21821del
NC_000002.11:g.48027106del
NM_000179.2:c.1984delA

Links:

dbSNP: rs1553413348

NCBI 1000 Genomes Browser:

rs1553413348

Molecular consequence:

NM_000179.3:c.1984del - nonsense - [Sequence Ontology: SO:0001587]
NM_001281492.2:c.1594del - nonsense - [Sequence Ontology: SO:0001587]
NM_001281493.2:c.1078del - nonsense - [Sequence Ontology: SO:0001587]
NM_001281494.2:c.1078del - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000673980	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jul 18, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000673980

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jul 18, 2017)

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, SCV000673980.5

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

Description

The c.1984delA pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 1984, causing a translational frameshift with a predicted alternate stop codon (p.M662*). 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

ClinVar

Relating variation to medicine