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NM_000251.3(MSH2):c.1386+1G>A AND Lynch syndrome 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 1, 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:
RCV003452828.1

Allele description [Variation Report for NM_000251.3(MSH2):c.1386+1G>A]

NM_000251.3(MSH2):c.1386+1G>A

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.1386+1G>A
HGVS:
  • NC_000002.12:g.47445658G>A
  • NG_007110.2:g.47535G>A
  • NM_000251.3:c.1386+1G>AMANE SELECT
  • NM_001258281.1:c.1188+1G>A
  • NM_001406631.1:c.1386+1G>A
  • NM_001406632.1:c.1386+1G>A
  • NM_001406633.1:c.1386+1G>A
  • NM_001406634.1:c.1386+1G>A
  • NM_001406635.1:c.1386+1G>A
  • NM_001406636.1:c.1353+1G>A
  • NM_001406637.1:c.1386+1G>A
  • NM_001406638.1:c.1386+1G>A
  • NM_001406639.1:c.1386+1G>A
  • NM_001406640.1:c.1386+1G>A
  • NM_001406641.1:c.1386+1G>A
  • NM_001406642.1:c.1386+1G>A
  • NM_001406643.1:c.1386+1G>A
  • NM_001406644.1:c.1386+1G>A
  • NM_001406645.1:c.1386+1G>A
  • NM_001406646.1:c.1386+1G>A
  • NM_001406647.1:c.1236+1G>A
  • NM_001406648.1:c.1386+1G>A
  • NM_001406649.1:c.1236+1G>A
  • NM_001406650.1:c.1236+1G>A
  • NM_001406651.1:c.1236+1G>A
  • NM_001406652.1:c.1236+1G>A
  • NM_001406653.1:c.1326+1G>A
  • NM_001406654.1:c.966+1G>A
  • NM_001406655.1:c.1386+1G>A
  • NM_001406656.1:c.489+1G>A
  • NM_001406657.1:c.1386+1G>A
  • NM_001406658.1:c.30+1G>A
  • NM_001406659.1:c.30+1G>A
  • NM_001406660.1:c.30+1G>A
  • NM_001406661.1:c.30+1G>A
  • NM_001406662.1:c.30+1G>A
  • NM_001406666.1:c.1386+1G>A
  • NM_001406669.1:c.30+1G>A
  • NM_001406672.1:c.1236+1G>A
  • NM_001406674.1:c.1386+1G>A
  • LRG_218t1:c.1386+1G>A
  • LRG_218:g.47535G>A
  • NC_000002.11:g.47672797G>A
  • NM_000251.1:c.1386+1G>A
  • NM_000251.2:c.1386+1G>A
Links:
dbSNP: rs267607957
NCBI 1000 Genomes Browser:
rs267607957
Molecular consequence:
  • NM_000251.3:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258281.1:c.1188+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406631.1:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406632.1:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406633.1:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406634.1:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406635.1:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406636.1:c.1353+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406637.1:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406638.1:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406639.1:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406640.1:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406641.1:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406642.1:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406643.1:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406644.1:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406645.1:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406646.1:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406647.1:c.1236+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406648.1:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406649.1:c.1236+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406650.1:c.1236+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406651.1:c.1236+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406652.1:c.1236+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406653.1:c.1326+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406654.1:c.966+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406655.1:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406656.1:c.489+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406657.1:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406658.1:c.30+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406659.1:c.30+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406660.1:c.30+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406661.1:c.30+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406662.1:c.30+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406666.1:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406669.1:c.30+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406672.1:c.1236+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406674.1:c.1386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004186718Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Likely pathogenic
(Aug 1, 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., SCV004186718.1

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

Description

This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

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

Last Updated: Jun 23, 2024