NM_000179.3(MSH6):c.4081_4082del (p.Ter1361AspextTer?) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 13, 2021
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:: RCV002321800.9

Allele description [Variation Report for NM_000179.3(MSH6):c.4081_4082del (p.Ter1361AspextTer?)]

NM_000179.3(MSH6):c.4081_4082del (p.Ter1361AspextTer?)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.4081_4082del (p.Ter1361AspextTer?)

HGVS:

NC_000002.12:g.47806856TA[1]
NG_007111.1:g.28710TA[1]
NG_008397.1:g.103817TA[1]
NM_000179.2:c.4081_4082delTA
NM_000179.3:c.4081_4082delMANE SELECT
NM_001281492.2:c.3691_3692del
NM_001281493.2:c.3175_3176del
NM_001281494.2:c.3175_3176del
NP_000170.1:p.Ter1361AspextTer?
NP_001268421.1:p.Ter1231AspextTer?
NP_001268422.1:p.Ter1059AspextTer?
NP_001268423.1:p.Ter1059AspextTer?
LRG_219t1:c.4081_4082del
LRG_219:g.28710TA[1]
NC_000002.11:g.48033995TA[1]
NC_000002.11:g.48033995_48033996del
NM_000179.2:c.4079_4080delTA
NM_000179.2:c.4081_4082del
NM_000179.2:c.4081_4082delTA

Links:

dbSNP: rs863224830

NCBI 1000 Genomes Browser:

rs863224830

Molecular consequence:

NM_000179.3:c.4081_4082del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281492.2:c.3691_3692del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281493.2:c.3175_3176del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281494.2:c.3175_3176del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000179.3:c.4081_4082del - stop lost - [Sequence Ontology: SO:0001578]
NM_001281492.2:c.3691_3692del - stop lost - [Sequence Ontology: SO:0001578]
NM_001281493.2:c.3175_3176del - stop lost - [Sequence Ontology: SO:0001578]
NM_001281494.2:c.3175_3176del - stop lost - [Sequence Ontology: SO:0001578]

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
SCV002628890	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 13, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002628890

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 13, 2021)

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, SCV002628890.2

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

Description

The c.4081_4082delTA variant, located in coding exon 10 of the MSH6 gene, results from a deletion of two nucleotides at nucleotide positions 4081 to 4082, causing a translational frameshift with a predicted alternate stop codon (p.*1361Dext*1). This alteration occurs at the 3' terminus of theMSH6 gene, is not expected to trigger nonsense-mediated mRNAdecay and results in the elongation of the protein by one amino acid. The exact functional effect of the altered amino acids is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Nov 10, 2024

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