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NM_000179.3(MSH6):c.3697_3698insGA (p.Lys1233fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 14, 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:
RCV002346758.2

Allele description [Variation Report for NM_000179.3(MSH6):c.3697_3698insGA (p.Lys1233fs)]

NM_000179.3(MSH6):c.3697_3698insGA (p.Lys1233fs)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3697_3698insGA (p.Lys1233fs)
HGVS:
  • NC_000002.12:g.47806254_47806255insGA
  • NG_007111.1:g.28108_28109insGA
  • NG_008397.1:g.104422_104423insCT
  • NM_000179.3:c.3697_3698insGAMANE SELECT
  • NM_001281492.2:c.3307_3308insGA
  • NM_001281493.2:c.2791_2792insGA
  • NM_001281494.2:c.2791_2792insGA
  • NM_001406795.1:c.3793_3794insGA
  • NM_001406796.1:c.3697_3698insGA
  • NM_001406797.1:c.3400_3401insGA
  • NM_001406798.1:c.3523_3524insGA
  • NM_001406799.1:c.3172_3173insGA
  • NM_001406800.1:c.3697_3698insGA
  • NM_001406801.1:c.3400_3401insGA
  • NM_001406802.1:c.3793_3794insGA
  • NM_001406803.1:c.2833_2834insGA
  • NM_001406804.1:c.3619_3620insGA
  • NM_001406805.1:c.3400_3401insGA
  • NM_001406806.1:c.3172_3173insGA
  • NM_001406807.1:c.3172_3173insGA
  • NM_001406808.1:c.3697_3698insGA
  • NM_001406809.1:c.3697_3698insGA
  • NM_001406811.1:c.2791_2792insGA
  • NM_001406812.1:c.2791_2792insGA
  • NM_001406813.1:c.3703_3704insGA
  • NM_001406814.1:c.2791_2792insGA
  • NM_001406815.1:c.2791_2792insGA
  • NM_001406816.1:c.2791_2792insGA
  • NM_001406817.1:c.2131_2132insGA
  • NM_001406818.1:c.3400_3401insGA
  • NM_001406819.1:c.3400_3401insGA
  • NM_001406820.1:c.3400_3401insGA
  • NM_001406821.1:c.3400_3401insGA
  • NM_001406822.1:c.3400_3401insGA
  • NM_001406823.1:c.2791_2792insGA
  • NM_001406824.1:c.3400_3401insGA
  • NM_001406825.1:c.3400_3401insGA
  • NM_001406826.1:c.3529_3530insGA
  • NM_001406827.1:c.3400_3401insGA
  • NM_001406828.1:c.3400_3401insGA
  • NM_001406829.1:c.2791_2792insGA
  • NM_001406830.1:c.3400_3401insGA
  • NM_001406831.1:c.478_479insGA
  • NM_001406832.1:c.544_545insGA
  • NM_001407362.1:c.1642_1643insGA
  • NP_000170.1:p.Lys1233Argfs
  • NP_000170.1:p.Lys1233fs
  • NP_001268421.1:p.Lys1103fs
  • NP_001268422.1:p.Lys931fs
  • NP_001268423.1:p.Lys931fs
  • NP_001393724.1:p.Lys1265Argfs
  • NP_001393725.1:p.Lys1233Argfs
  • NP_001393726.1:p.Lys1134Argfs
  • NP_001393727.1:p.Lys1175Argfs
  • NP_001393728.1:p.Lys1058Argfs
  • NP_001393729.1:p.Lys1233Argfs
  • NP_001393730.1:p.Lys1134Argfs
  • NP_001393731.1:p.Lys1265Argfs
  • NP_001393732.1:p.Lys945Argfs
  • NP_001393733.1:p.Lys1207Argfs
  • NP_001393734.1:p.Lys1134Argfs
  • NP_001393735.1:p.Lys1058Argfs
  • NP_001393736.1:p.Lys1058Argfs
  • NP_001393737.1:p.Lys1233Argfs
  • NP_001393738.1:p.Lys1233Argfs
  • NP_001393740.1:p.Lys931Argfs
  • NP_001393741.1:p.Lys931Argfs
  • NP_001393742.1:p.Lys1235Argfs
  • NP_001393743.1:p.Lys931Argfs
  • NP_001393744.1:p.Lys931Argfs
  • NP_001393745.1:p.Lys931Argfs
  • NP_001393746.1:p.Lys711Argfs
  • NP_001393747.1:p.Lys1134Argfs
  • NP_001393748.1:p.Lys1134Argfs
  • NP_001393749.1:p.Lys1134Argfs
  • NP_001393750.1:p.Lys1134Argfs
  • NP_001393751.1:p.Lys1134Argfs
  • NP_001393752.1:p.Lys931Argfs
  • NP_001393753.1:p.Lys1134Argfs
  • NP_001393754.1:p.Lys1134Argfs
  • NP_001393755.1:p.Lys1177Argfs
  • NP_001393756.1:p.Lys1134Argfs
  • NP_001393757.1:p.Lys1134Argfs
  • NP_001393758.1:p.Lys931Argfs
  • NP_001393759.1:p.Lys1134Argfs
  • NP_001393760.1:p.Lys160Argfs
  • NP_001393761.1:p.Lys182Argfs
  • NP_001394291.1:p.Lys548Argfs
  • LRG_219t1:c.3697_3698insGA
  • LRG_219:g.28108_28109insGA
  • LRG_219p1:p.Lys1233Argfs
  • NC_000002.11:g.48033393_48033394insGA
  • NM_000179.2:c.3697_3698insGA
  • NR_176256.1:n.2627_2628insGA
  • NR_176257.1:n.3958_3959insGA
  • NR_176258.1:n.3887_3888insGA
  • NR_176259.1:n.3786_3787insGA
  • NR_176260.1:n.1731_1732insGA
  • NR_176261.1:n.3668_3669insGA
Protein change:
K1103fs
Molecular consequence:
  • NM_000179.3:c.3697_3698insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.3307_3308insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281493.2:c.2791_2792insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281494.2:c.2791_2792insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406795.1:c.3793_3794insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406796.1:c.3697_3698insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406797.1:c.3400_3401insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406798.1:c.3523_3524insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406799.1:c.3172_3173insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406800.1:c.3697_3698insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406801.1:c.3400_3401insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406802.1:c.3793_3794insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406803.1:c.2833_2834insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406804.1:c.3619_3620insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406805.1:c.3400_3401insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406806.1:c.3172_3173insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406807.1:c.3172_3173insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406808.1:c.3697_3698insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406809.1:c.3697_3698insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406811.1:c.2791_2792insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406812.1:c.2791_2792insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406813.1:c.3703_3704insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406814.1:c.2791_2792insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406815.1:c.2791_2792insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406816.1:c.2791_2792insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406817.1:c.2131_2132insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406818.1:c.3400_3401insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406819.1:c.3400_3401insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406820.1:c.3400_3401insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406821.1:c.3400_3401insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406822.1:c.3400_3401insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406823.1:c.2791_2792insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406824.1:c.3400_3401insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406825.1:c.3400_3401insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406826.1:c.3529_3530insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406827.1:c.3400_3401insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406828.1:c.3400_3401insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406829.1:c.2791_2792insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406830.1:c.3400_3401insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406831.1:c.478_479insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406832.1:c.544_545insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407362.1:c.1642_1643insGA - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002621449Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Oct 14, 2022) 		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, SCV002621449.2

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

Description

The c.3697_3698insGA pathogenic mutation, located in coding exon 8 of the MSH6 gene, results from an insertion of two nucleotides at position 3697, causing a translational frameshift with a predicted alternate stop codon (p.K1233Rfs*8). 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