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NM_000179.3(MSH6):c.3577_3581del (p.Glu1193fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 27, 2013
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:
RCV000491877.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3577_3581del (p.Glu1193fs)]

NM_000179.3(MSH6):c.3577_3581del (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.3577_3581del (p.Glu1193fs)
HGVS:
  • NC_000002.12:g.47805638_47805642del
  • NG_007111.1:g.27492_27496del
  • NG_008397.1:g.105036_105040del
  • NM_000179.3:c.3577_3581delMANE SELECT
  • NM_001281492.2:c.3187_3191del
  • NM_001281493.2:c.2671_2675del
  • NM_001281494.2:c.2671_2675del
  • NP_000170.1:p.Glu1193fs
  • NP_000170.1:p.Glu1193fs
  • NP_001268421.1:p.Glu1063fs
  • NP_001268422.1:p.Glu891fs
  • NP_001268423.1:p.Glu891fs
  • LRG_219t1:c.3577_3581del
  • LRG_219:g.27492_27496del
  • LRG_219p1:p.Glu1193fs
  • NC_000002.11:g.48032775_48032779del
  • NC_000002.11:g.48032777_48032781del
  • NM_000179.2:c.3575_3579delTTGAA
  • NM_000179.2:c.3577_3581del
  • NM_000179.2:c.3577_3581delGAATT
Protein change:
E1063fs
Links:
dbSNP: rs1060502881
NCBI 1000 Genomes Browser:
rs1060502881
Molecular consequence:
  • NM_000179.3:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.3187_3191del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281493.2:c.2671_2675del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281494.2:c.2671_2675del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000580215Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Pathogenic
(Nov 27, 2013) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000580215.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

​The c.3575_3579delTTGAA pathogenic mutation, located in coding exon 7 of the MSH6 gene, results from a deletion of 5 nucleotides between positions 3575 and 3579, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 28, 2024