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NM_000251.3(MSH2):c.193A>T (p.Lys65Ter) AND Lynch syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 26, 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:
RCV003454305.1

Allele description [Variation Report for NM_000251.3(MSH2):c.193A>T (p.Lys65Ter)]

NM_000251.3(MSH2):c.193A>T (p.Lys65Ter)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.193A>T (p.Lys65Ter)
HGVS:
  • NC_000002.12:g.47403384A>T
  • NG_007110.2:g.5261A>T
  • NG_095167.1:g.588A>T
  • NM_000251.3:c.193A>TMANE SELECT
  • NM_001258281.1:c.-6A>T
  • NM_001406631.1:c.193A>T
  • NM_001406632.1:c.193A>T
  • NM_001406633.1:c.193A>T
  • NM_001406634.1:c.193A>T
  • NM_001406635.1:c.193A>T
  • NM_001406636.1:c.193A>T
  • NM_001406637.1:c.193A>T
  • NM_001406638.1:c.193A>T
  • NM_001406639.1:c.193A>T
  • NM_001406640.1:c.193A>T
  • NM_001406641.1:c.193A>T
  • NM_001406642.1:c.193A>T
  • NM_001406643.1:c.193A>T
  • NM_001406644.1:c.193A>T
  • NM_001406645.1:c.193A>T
  • NM_001406646.1:c.193A>T
  • NM_001406647.1:c.193A>T
  • NM_001406648.1:c.193A>T
  • NM_001406649.1:c.193A>T
  • NM_001406650.1:c.193A>T
  • NM_001406651.1:c.193A>T
  • NM_001406652.1:c.193A>T
  • NM_001406653.1:c.193A>T
  • NM_001406654.1:c.-148A>T
  • NM_001406655.1:c.193A>T
  • NM_001406656.1:c.-803A>T
  • NM_001406657.1:c.193A>T
  • NM_001406658.1:c.-1126A>T
  • NM_001406659.1:c.-1276A>T
  • NM_001406660.1:c.-1473A>T
  • NM_001406661.1:c.-1428A>T
  • NM_001406662.1:c.-1345A>T
  • NM_001406666.1:c.193A>T
  • NM_001406669.1:c.-1276A>T
  • NM_001406672.1:c.193A>T
  • NM_001406674.1:c.193A>T
  • NP_000242.1:p.Lys65Ter
  • NP_000242.1:p.Lys65Ter
  • NP_001393560.1:p.Lys65Ter
  • NP_001393561.1:p.Lys65Ter
  • NP_001393562.1:p.Lys65Ter
  • NP_001393563.1:p.Lys65Ter
  • NP_001393564.1:p.Lys65Ter
  • NP_001393565.1:p.Lys65Ter
  • NP_001393566.1:p.Lys65Ter
  • NP_001393567.1:p.Lys65Ter
  • NP_001393568.1:p.Lys65Ter
  • NP_001393569.1:p.Lys65Ter
  • NP_001393570.1:p.Lys65Ter
  • NP_001393571.1:p.Lys65Ter
  • NP_001393572.1:p.Lys65Ter
  • NP_001393573.1:p.Lys65Ter
  • NP_001393574.1:p.Lys65Ter
  • NP_001393575.1:p.Lys65Ter
  • NP_001393576.1:p.Lys65Ter
  • NP_001393577.1:p.Lys65Ter
  • NP_001393578.1:p.Lys65Ter
  • NP_001393579.1:p.Lys65Ter
  • NP_001393580.1:p.Lys65Ter
  • NP_001393581.1:p.Lys65Ter
  • NP_001393582.1:p.Lys65Ter
  • NP_001393584.1:p.Lys65Ter
  • NP_001393586.1:p.Lys65Ter
  • NP_001393595.1:p.Lys65Ter
  • NP_001393601.1:p.Lys65Ter
  • NP_001393603.1:p.Lys65Ter
  • LRG_218t1:c.193A>T
  • LRG_218:g.5261A>T
  • LRG_218p1:p.Lys65Ter
  • NC_000002.11:g.47630523A>T
  • NM_000251.1:c.193A>T
  • NM_000251.2:c.193A>T
  • NR_176230.1:n.229A>T
  • NR_176231.1:n.229A>T
  • NR_176232.1:n.229A>T
  • NR_176233.1:n.229A>T
  • NR_176234.1:n.229A>T
  • NR_176235.1:n.229A>T
  • NR_176236.1:n.229A>T
  • NR_176237.1:n.229A>T
  • NR_176238.1:n.229A>T
  • NR_176239.1:n.229A>T
  • NR_176240.1:n.229A>T
  • NR_176241.1:n.229A>T
  • NR_176242.1:n.229A>T
  • NR_176243.1:n.229A>T
  • NR_176244.1:n.229A>T
  • NR_176245.1:n.229A>T
  • NR_176246.1:n.229A>T
  • NR_176247.1:n.229A>T
  • NR_176248.1:n.229A>T
  • NR_176249.1:n.229A>T
  • NR_176250.1:n.229A>T
Protein change:
K65*
Molecular consequence:
  • NM_001258281.1:c.-6A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000251.3:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406631.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406632.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406633.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406634.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406635.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406636.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406637.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406638.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406639.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406640.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406641.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406642.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406643.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406644.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406645.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406646.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406647.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406648.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406649.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406650.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406651.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406652.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406653.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406655.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406657.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406666.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406672.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406674.1:c.193A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Lynch syndrome 1
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; Lynch syndrome I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007356; MedGen: C2936783; Orphanet: 144; OMIM: 120435

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004186972Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Jul 26, 2023) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004186972.1

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

Description

This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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

Last Updated: Nov 10, 2024