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NM_000179.3(MSH6):c.860delinsTTCAC (p.Ser287fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 21, 2023
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:
RCV003360819.2

Allele description [Variation Report for NM_000179.3(MSH6):c.860delinsTTCAC (p.Ser287fs)]

NM_000179.3(MSH6):c.860delinsTTCAC (p.Ser287fs)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.860delinsTTCAC (p.Ser287fs)
HGVS:
  • NC_000002.12:g.47798843delinsTTCAC
  • NG_007111.1:g.20697delinsTTCAC
  • NM_000179.3:c.860delinsTTCACMANE SELECT
  • NM_001281492.2:c.470delinsTTCAC
  • NM_001281493.2:c.-47delinsTTCAC
  • NM_001281494.2:c.-47delinsTTCAC
  • NM_001406795.1:c.956delinsTTCAC
  • NM_001406796.1:c.860delinsTTCAC
  • NM_001406797.1:c.563delinsTTCAC
  • NM_001406798.1:c.860delinsTTCAC
  • NM_001406799.1:c.335delinsTTCAC
  • NM_001406800.1:c.860delinsTTCAC
  • NM_001406801.1:c.563delinsTTCAC
  • NM_001406802.1:c.956delinsTTCAC
  • NM_001406803.1:c.860delinsTTCAC
  • NM_001406804.1:c.782delinsTTCAC
  • NM_001406805.1:c.563delinsTTCAC
  • NM_001406806.1:c.335delinsTTCAC
  • NM_001406807.1:c.335delinsTTCAC
  • NM_001406808.1:c.860delinsTTCAC
  • NM_001406809.1:c.860delinsTTCAC
  • NM_001406811.1:c.-47delinsTTCAC
  • NM_001406812.1:c.-47delinsTTCAC
  • NM_001406813.1:c.866delinsTTCAC
  • NM_001406814.1:c.-47delinsTTCAC
  • NM_001406815.1:c.-47delinsTTCAC
  • NM_001406816.1:c.-47delinsTTCAC
  • NM_001406817.1:c.860delinsTTCAC
  • NM_001406818.1:c.563delinsTTCAC
  • NM_001406819.1:c.563delinsTTCAC
  • NM_001406820.1:c.563delinsTTCAC
  • NM_001406821.1:c.563delinsTTCAC
  • NM_001406822.1:c.563delinsTTCAC
  • NM_001406823.1:c.-47delinsTTCAC
  • NM_001406824.1:c.563delinsTTCAC
  • NM_001406825.1:c.563delinsTTCAC
  • NM_001406826.1:c.692delinsTTCAC
  • NM_001406827.1:c.563delinsTTCAC
  • NM_001406828.1:c.563delinsTTCAC
  • NM_001406829.1:c.-47delinsTTCAC
  • NM_001406830.1:c.563delinsTTCAC
  • NM_001407362.1:c.628-1823delinsTTCAC
  • NP_000170.1:p.Ser287Ilefs
  • NP_000170.1:p.Ser287fs
  • NP_001268421.1:p.Ser157fs
  • NP_001393724.1:p.Ser319fs
  • NP_001393725.1:p.Ser287fs
  • NP_001393726.1:p.Ser188fs
  • NP_001393727.1:p.Ser287fs
  • NP_001393728.1:p.Ser112fs
  • NP_001393729.1:p.Ser287fs
  • NP_001393730.1:p.Ser188fs
  • NP_001393731.1:p.Ser319fs
  • NP_001393732.1:p.Ser287fs
  • NP_001393733.1:p.Ser261fs
  • NP_001393734.1:p.Ser188fs
  • NP_001393735.1:p.Ser112fs
  • NP_001393736.1:p.Ser112fs
  • NP_001393737.1:p.Ser287fs
  • NP_001393738.1:p.Ser287fs
  • NP_001393742.1:p.Ser289fs
  • NP_001393746.1:p.Ser287fs
  • NP_001393747.1:p.Ser188fs
  • NP_001393748.1:p.Ser188fs
  • NP_001393749.1:p.Ser188fs
  • NP_001393750.1:p.Ser188fs
  • NP_001393751.1:p.Ser188fs
  • NP_001393753.1:p.Ser188fs
  • NP_001393754.1:p.Ser188fs
  • NP_001393755.1:p.Ser231fs
  • NP_001393756.1:p.Ser188fs
  • NP_001393757.1:p.Ser188fs
  • NP_001393759.1:p.Ser188fs
  • LRG_219t1:c.860delGinsTTCAC
  • LRG_219:g.20697delinsTTCAC
  • LRG_219p1:p.Ser287Ilefs
  • NC_000002.11:g.48025982delinsTTCAC
  • NM_000179.2:c.860delGinsTTCAC
  • NR_176257.1:n.949delinsTTCAC
  • NR_176258.1:n.949delinsTTCAC
  • NR_176259.1:n.949delinsTTCAC
  • NR_176261.1:n.949delinsTTCAC
Protein change:
S112fs
Molecular consequence:
  • NM_001281493.2:c.-47delinsTTCAC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001281494.2:c.-47delinsTTCAC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001406811.1:c.-47delinsTTCAC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001406812.1:c.-47delinsTTCAC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001406814.1:c.-47delinsTTCAC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001406815.1:c.-47delinsTTCAC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001406816.1:c.-47delinsTTCAC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001406823.1:c.-47delinsTTCAC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001406829.1:c.-47delinsTTCAC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000179.3:c.860delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.470delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406795.1:c.956delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406796.1:c.860delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406797.1:c.563delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406798.1:c.860delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406799.1:c.335delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406800.1:c.860delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406801.1:c.563delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406802.1:c.956delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406803.1:c.860delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406804.1:c.782delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406805.1:c.563delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406806.1:c.335delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406807.1:c.335delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406808.1:c.860delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406809.1:c.860delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406813.1:c.866delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406817.1:c.860delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406818.1:c.563delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406819.1:c.563delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406820.1:c.563delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406821.1:c.563delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406822.1:c.563delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406824.1:c.563delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406825.1:c.563delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406826.1:c.692delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406827.1:c.563delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406828.1:c.563delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406830.1:c.563delinsTTCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407362.1:c.628-1823delinsTTCAC - intron variant - [Sequence Ontology: SO:0001627]
  • NR_176257.1:n.949delinsTTCAC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176258.1:n.949delinsTTCAC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176259.1:n.949delinsTTCAC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176261.1:n.949delinsTTCAC - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004057508Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Aug 21, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004057508.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.860delGinsTTCAC pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from the deletion of one nucleotide and insertion of 5 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.S287Ifs*3). 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024