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NM_000251.3(MSH2):c.1386+1G>A AND Hereditary nonpolyposis colorectal carcinoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001789614.1

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:
Hereditary nonpolyposis colorectal carcinoma
Identifiers:
MedGen: C4024989; Human Phenotype Ontology: HP:0006716

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002032077Medical Genetics, Medical University Pleven
no assertion criteria provided
Pathogenic
(Jan 1, 2021) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Details of each submission

From Medical Genetics, Medical University Pleven, SCV002032077.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024