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NM_000179.3(MSH6):c.3560_3568del (p.Glu1187_Phe1190delinsVal) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 14, 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:
RCV002454930.2

Allele description [Variation Report for NM_000179.3(MSH6):c.3560_3568del (p.Glu1187_Phe1190delinsVal)]

NM_000179.3(MSH6):c.3560_3568del (p.Glu1187_Phe1190delinsVal)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3560_3568del (p.Glu1187_Phe1190delinsVal)
HGVS:
  • NC_000002.12:g.47805621_47805629del
  • NG_007111.1:g.27475_27483del
  • NG_008397.1:g.105047_105055del
  • NM_000179.3:c.3560_3568delMANE SELECT
  • NM_001281492.2:c.3170_3178del
  • NM_001281493.2:c.2654_2662del
  • NM_001281494.2:c.2654_2662del
  • NM_001406795.1:c.3656_3664delAAAGTACAT
  • NM_001406796.1:c.3560_3568delAAAGTACAT
  • NM_001406797.1:c.3263_3271delAAAGTACAT
  • NM_001406798.1:c.3386_3394delAAAGTACAT
  • NM_001406799.1:c.3035_3043delAAAGTACAT
  • NM_001406800.1:c.3560_3568delAAAGTACAT
  • NM_001406801.1:c.3263_3271delAAAGTACAT
  • NM_001406802.1:c.3656_3664delAAAGTACAT
  • NM_001406803.1:c.2696_2704delAAAGTACAT
  • NM_001406804.1:c.3482_3490delAAAGTACAT
  • NM_001406805.1:c.3263_3271delAAAGTACAT
  • NM_001406806.1:c.3035_3043delAAAGTACAT
  • NM_001406807.1:c.3035_3043delAAAGTACAT
  • NM_001406808.1:c.3560_3568delAAAGTACAT
  • NM_001406809.1:c.3560_3568delAAAGTACAT
  • NM_001406811.1:c.2654_2662delAAAGTACAT
  • NM_001406812.1:c.2654_2662delAAAGTACAT
  • NM_001406813.1:c.3566_3574delAAAGTACAT
  • NM_001406814.1:c.2654_2662delAAAGTACAT
  • NM_001406815.1:c.2654_2662delAAAGTACAT
  • NM_001406816.1:c.2654_2662delAAAGTACAT
  • NM_001406817.1:c.1994_2002delAAAGTACAT
  • NM_001406818.1:c.3263_3271delAAAGTACAT
  • NM_001406819.1:c.3263_3271delAAAGTACAT
  • NM_001406820.1:c.3263_3271delAAAGTACAT
  • NM_001406821.1:c.3263_3271delAAAGTACAT
  • NM_001406822.1:c.3263_3271delAAAGTACAT
  • NM_001406823.1:c.2654_2662delAAAGTACAT
  • NM_001406824.1:c.3263_3271delAAAGTACAT
  • NM_001406825.1:c.3263_3271delAAAGTACAT
  • NM_001406826.1:c.3392_3400delAAAGTACAT
  • NM_001406827.1:c.3263_3271delAAAGTACAT
  • NM_001406828.1:c.3263_3271delAAAGTACAT
  • NM_001406829.1:c.2654_2662delAAAGTACAT
  • NM_001406830.1:c.3263_3271delAAAGTACAT
  • NM_001406831.1:c.341_349delAAAGTACAT
  • NM_001406832.1:c.407_415delAAAGTACAT
  • NM_001407362.1:c.1505_1513delAAAGTACAT
  • NP_000170.1:p.Glu1187_Phe1190delinsVal
  • NP_000170.1:p.Glu1187_Phe1190delinsVal
  • NP_001268421.1:p.Glu1057_Phe1060delinsVal
  • NP_001268422.1:p.Glu885_Phe888delinsVal
  • NP_001268423.1:p.Glu885_Phe888delinsVal
  • NP_001393724.1:p.Glu1219_Phe1222delinsVal
  • NP_001393725.1:p.Glu1187_Phe1190delinsVal
  • NP_001393726.1:p.Glu1088_Phe1091delinsVal
  • NP_001393727.1:p.Glu1129_Phe1132delinsVal
  • NP_001393728.1:p.Glu1012_Phe1015delinsVal
  • NP_001393729.1:p.Glu1187_Phe1190delinsVal
  • NP_001393730.1:p.Glu1088_Phe1091delinsVal
  • NP_001393731.1:p.Glu1219_Phe1222delinsVal
  • NP_001393732.1:p.Glu899_Phe902delinsVal
  • NP_001393733.1:p.Glu1161_Phe1164delinsVal
  • NP_001393734.1:p.Glu1088_Phe1091delinsVal
  • NP_001393735.1:p.Glu1012_Phe1015delinsVal
  • NP_001393736.1:p.Glu1012_Phe1015delinsVal
  • NP_001393737.1:p.Glu1187_Phe1190delinsVal
  • NP_001393738.1:p.Glu1187_Phe1190delinsVal
  • NP_001393740.1:p.Glu885_Phe888delinsVal
  • NP_001393741.1:p.Glu885_Phe888delinsVal
  • NP_001393742.1:p.Glu1189_Phe1192delinsVal
  • NP_001393743.1:p.Glu885_Phe888delinsVal
  • NP_001393744.1:p.Glu885_Phe888delinsVal
  • NP_001393745.1:p.Glu885_Phe888delinsVal
  • NP_001393746.1:p.Glu665_Phe668delinsVal
  • NP_001393747.1:p.Glu1088_Phe1091delinsVal
  • NP_001393748.1:p.Glu1088_Phe1091delinsVal
  • NP_001393749.1:p.Glu1088_Phe1091delinsVal
  • NP_001393750.1:p.Glu1088_Phe1091delinsVal
  • NP_001393751.1:p.Glu1088_Phe1091delinsVal
  • NP_001393752.1:p.Glu885_Phe888delinsVal
  • NP_001393753.1:p.Glu1088_Phe1091delinsVal
  • NP_001393754.1:p.Glu1088_Phe1091delinsVal
  • NP_001393755.1:p.Glu1131_Phe1134delinsVal
  • NP_001393756.1:p.Glu1088_Phe1091delinsVal
  • NP_001393757.1:p.Glu1088_Phe1091delinsVal
  • NP_001393758.1:p.Glu885_Phe888delinsVal
  • NP_001393759.1:p.Glu1088_Phe1091delinsVal
  • NP_001393760.1:p.Glu114_Phe117delinsVal
  • NP_001393761.1:p.Glu136_Phe139delinsVal
  • NP_001394291.1:p.Glu502_Phe505delinsVal
  • LRG_219t1:c.3560_3568del
  • LRG_219:g.27475_27483del
  • LRG_219p1:p.Glu1187_Phe1190delinsVal
  • NC_000002.11:g.48032760_48032768del
  • NM_000179.2:c.3560_3568delAAAGTACAT
  • NR_176256.1:n.2490_2498delAAAGTACAT
  • NR_176257.1:n.3821_3829delAAAGTACAT
  • NR_176258.1:n.3750_3758delAAAGTACAT
  • NR_176259.1:n.3649_3657delAAAGTACAT
  • NR_176260.1:n.1594_1602delAAAGTACAT
  • NR_176261.1:n.3531_3539delAAAGTACAT
Molecular consequence:
  • NM_000179.3:c.3560_3568del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001281492.2:c.3170_3178del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001281493.2:c.2654_2662del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001281494.2:c.2654_2662del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406795.1:c.3656_3664delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406796.1:c.3560_3568delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406797.1:c.3263_3271delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406798.1:c.3386_3394delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406799.1:c.3035_3043delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406800.1:c.3560_3568delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406801.1:c.3263_3271delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406802.1:c.3656_3664delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406803.1:c.2696_2704delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406804.1:c.3482_3490delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406805.1:c.3263_3271delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406806.1:c.3035_3043delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406807.1:c.3035_3043delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406808.1:c.3560_3568delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406809.1:c.3560_3568delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406811.1:c.2654_2662delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406812.1:c.2654_2662delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406813.1:c.3566_3574delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406814.1:c.2654_2662delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406815.1:c.2654_2662delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406816.1:c.2654_2662delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406817.1:c.1994_2002delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406818.1:c.3263_3271delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406819.1:c.3263_3271delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406820.1:c.3263_3271delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406821.1:c.3263_3271delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406822.1:c.3263_3271delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406823.1:c.2654_2662delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406824.1:c.3263_3271delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406825.1:c.3263_3271delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406826.1:c.3392_3400delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406827.1:c.3263_3271delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406828.1:c.3263_3271delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406829.1:c.2654_2662delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406830.1:c.3263_3271delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406831.1:c.341_349delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406832.1:c.407_415delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407362.1:c.1505_1513delAAAGTACAT - inframe_indel - [Sequence Ontology: SO:0001820]

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
SCV002613870Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 14, 2021) 		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, SCV002613870.2

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

Description

The c.3560_3568delAAAGTACAT variant (also known as p.E1187_F1190delinsV) is located in coding exon 7 of the MSH6 gene. This variant results from an in-frame AAAGTACAT deletion at nucleotide positions 3560 to 3568. This results in the in-frame deletion of 4 amino acids and the insertion of a valine residue between codons 1187 and 1190. These amino acid positions are highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024