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NM_000179.3(MSH6):c.3706dup (p.Ala1236fs) AND Lynch syndrome 5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 25, 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:
RCV003455805.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3706dup (p.Ala1236fs)]

NM_000179.3(MSH6):c.3706dup (p.Ala1236fs)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3706dup (p.Ala1236fs)
HGVS:
  • NC_000002.12:g.47806263dup
  • NG_007111.1:g.28117dup
  • NG_008397.1:g.104413dup
  • NM_000179.3:c.3706dupMANE SELECT
  • NM_001281492.2:c.3316dup
  • NM_001281493.2:c.2800dup
  • NM_001281494.2:c.2800dup
  • NM_001406795.1:c.3802dup
  • NM_001406796.1:c.3706dup
  • NM_001406797.1:c.3409dup
  • NM_001406798.1:c.3532dup
  • NM_001406799.1:c.3181dup
  • NM_001406800.1:c.3706dup
  • NM_001406801.1:c.3409dup
  • NM_001406802.1:c.3802dup
  • NM_001406803.1:c.2842dup
  • NM_001406804.1:c.3628dup
  • NM_001406805.1:c.3409dup
  • NM_001406806.1:c.3181dup
  • NM_001406807.1:c.3181dup
  • NM_001406808.1:c.3706dup
  • NM_001406809.1:c.3706dup
  • NM_001406811.1:c.2800dup
  • NM_001406812.1:c.2800dup
  • NM_001406813.1:c.3712dup
  • NM_001406814.1:c.2800dup
  • NM_001406815.1:c.2800dup
  • NM_001406816.1:c.2800dup
  • NM_001406817.1:c.2140dup
  • NM_001406818.1:c.3409dup
  • NM_001406819.1:c.3409dup
  • NM_001406820.1:c.3409dup
  • NM_001406821.1:c.3409dup
  • NM_001406822.1:c.3409dup
  • NM_001406823.1:c.2800dup
  • NM_001406824.1:c.3409dup
  • NM_001406825.1:c.3409dup
  • NM_001406826.1:c.3538dup
  • NM_001406827.1:c.3409dup
  • NM_001406828.1:c.3409dup
  • NM_001406829.1:c.2800dup
  • NM_001406830.1:c.3409dup
  • NM_001406831.1:c.487dup
  • NM_001406832.1:c.553dup
  • NM_001407362.1:c.1651dup
  • NP_000170.1:p.Ala1236Glyfs
  • NP_000170.1:p.Ala1236fs
  • NP_001268421.1:p.Ala1106fs
  • NP_001268422.1:p.Ala934fs
  • NP_001268423.1:p.Ala934fs
  • NP_001393724.1:p.Ala1268fs
  • NP_001393725.1:p.Ala1236fs
  • NP_001393726.1:p.Ala1137fs
  • NP_001393727.1:p.Ala1178fs
  • NP_001393728.1:p.Ala1061fs
  • NP_001393729.1:p.Ala1236fs
  • NP_001393730.1:p.Ala1137fs
  • NP_001393731.1:p.Ala1268fs
  • NP_001393732.1:p.Ala948fs
  • NP_001393733.1:p.Ala1210fs
  • NP_001393734.1:p.Ala1137fs
  • NP_001393735.1:p.Ala1061fs
  • NP_001393736.1:p.Ala1061fs
  • NP_001393737.1:p.Ala1236fs
  • NP_001393738.1:p.Ala1236fs
  • NP_001393740.1:p.Ala934fs
  • NP_001393741.1:p.Ala934fs
  • NP_001393742.1:p.Ala1238fs
  • NP_001393743.1:p.Ala934fs
  • NP_001393744.1:p.Ala934fs
  • NP_001393745.1:p.Ala934fs
  • NP_001393746.1:p.Ala714fs
  • NP_001393747.1:p.Ala1137fs
  • NP_001393748.1:p.Ala1137fs
  • NP_001393749.1:p.Ala1137fs
  • NP_001393750.1:p.Ala1137fs
  • NP_001393751.1:p.Ala1137fs
  • NP_001393752.1:p.Ala934fs
  • NP_001393753.1:p.Ala1137fs
  • NP_001393754.1:p.Ala1137fs
  • NP_001393755.1:p.Ala1180fs
  • NP_001393756.1:p.Ala1137fs
  • NP_001393757.1:p.Ala1137fs
  • NP_001393758.1:p.Ala934fs
  • NP_001393759.1:p.Ala1137fs
  • NP_001393760.1:p.Ala163fs
  • NP_001393761.1:p.Ala185fs
  • NP_001394291.1:p.Ala551fs
  • LRG_219t1:c.3706dup
  • LRG_219:g.28117dup
  • LRG_219p1:p.Ala1236Glyfs
  • NC_000002.11:g.48033402dup
  • NM_000179.2:c.3706dup
  • NM_000179.2:c.3706dupG
  • NR_176256.1:n.2636dup
  • NR_176257.1:n.3967dup
  • NR_176258.1:n.3896dup
  • NR_176259.1:n.3795dup
  • NR_176260.1:n.1740dup
  • NR_176261.1:n.3677dup
Protein change:
A1061fs
Molecular consequence:
  • NM_000179.3:c.3706dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.3316dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281493.2:c.2800dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281494.2:c.2800dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406795.1:c.3802dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406796.1:c.3706dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406797.1:c.3409dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406798.1:c.3532dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406799.1:c.3181dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406800.1:c.3706dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406801.1:c.3409dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406802.1:c.3802dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406803.1:c.2842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406804.1:c.3628dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406805.1:c.3409dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406806.1:c.3181dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406807.1:c.3181dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406808.1:c.3706dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406809.1:c.3706dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406811.1:c.2800dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406812.1:c.2800dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406813.1:c.3712dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406814.1:c.2800dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406815.1:c.2800dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406816.1:c.2800dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406817.1:c.2140dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406818.1:c.3409dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406819.1:c.3409dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406820.1:c.3409dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406821.1:c.3409dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406822.1:c.3409dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406823.1:c.2800dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406824.1:c.3409dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406825.1:c.3409dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406826.1:c.3538dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406827.1:c.3409dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406828.1:c.3409dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406829.1:c.2800dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406830.1:c.3409dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406831.1:c.487dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406832.1:c.553dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407362.1:c.1651dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_176256.1:n.2636dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176257.1:n.3967dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176258.1:n.3896dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176259.1:n.3795dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176261.1:n.3677dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Lynch syndrome 5 (LYNCH5)
Synonyms:
Colorectal cancer, hereditary nonpolyposis, type 5; Hereditary non-polyposis colorectal cancer, type 5
Identifiers:
MONDO: MONDO:0013710; MedGen: C1833477; Orphanet: 144; OMIM: 614350

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004187364Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Aug 25, 2023) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004187364.1

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Oct 8, 2024