NM_000249.4(MLH1):c.677+1G>A AND Lynch syndrome II

Clinical significance:Likely pathogenic (Last evaluated: Jun 4, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000663323.1

Allele description [Variation Report for NM_000249.4(MLH1):c.677+1G>A]

NM_000249.4(MLH1):c.677+1G>A

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.4(MLH1):c.677+1G>A
HGVS:
  • NC_000003.12:g.37012100G>A
  • NG_007109.2:g.23751G>A
  • NM_000249.4:c.677+1G>AMANE SELECT
  • NM_001167617.3:c.383+1G>A
  • NM_001167618.3:c.-47+1G>A
  • NM_001167619.3:c.-47+1G>A
  • NM_001258271.2:c.677+1G>A
  • NM_001258273.2:c.-47+1G>A
  • NM_001258274.3:c.-47+1G>A
  • NM_001354615.2:c.-47+1G>A
  • NM_001354616.2:c.-47+1G>A
  • NM_001354617.2:c.-47+1G>A
  • NM_001354618.2:c.-47+1G>A
  • NM_001354619.2:c.-47+1G>A
  • NM_001354620.2:c.383+1G>A
  • NM_001354621.2:c.-140+1G>A
  • NM_001354622.2:c.-253+1G>A
  • NM_001354623.2:c.-253+1G>A
  • NM_001354624.2:c.-150+1G>A
  • NM_001354625.2:c.-150+1G>A
  • NM_001354626.2:c.-150+1G>A
  • NM_001354627.2:c.-150+1G>A
  • NM_001354628.2:c.677+1G>A
  • NM_001354629.2:c.578+1G>A
  • NM_001354630.2:c.677+1G>A
  • LRG_216t1:c.677+1G>A
  • LRG_216:g.23751G>A
  • NC_000003.11:g.37053591G>A
  • NM_000249.3:c.677+1G>A
Links:
dbSNP: rs267607778
NCBI 1000 Genomes Browser:
rs267607778
Molecular consequence:
  • NM_000249.4:c.677+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001167617.3:c.383+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001167618.3:c.-47+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001167619.3:c.-47+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258271.2:c.677+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258273.2:c.-47+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258274.3:c.-47+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354615.2:c.-47+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354616.2:c.-47+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354617.2:c.-47+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354618.2:c.-47+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354619.2:c.-47+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354620.2:c.383+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354621.2:c.-140+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354622.2:c.-253+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354623.2:c.-253+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354624.2:c.-150+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354625.2:c.-150+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354626.2:c.-150+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354627.2:c.-150+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354628.2:c.677+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354629.2:c.578+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354630.2:c.677+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Lynch syndrome II (HNPCC2)
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; MLH1-Related Hereditary Non-Polyposis Colon Cancer; MLH1-Related Lynch Syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012249; MedGen: C1333991; Orphanet: 144; OMIM: 609310

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000786595Counsylcriteria provided, single submitter
Likely pathogenic
(Jun 4, 2018)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Summary from all submissions

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

Citations

PubMed

Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

De Lellis L, Aceto GM, Curia MC, Catalano T, Mammarella S, Veschi S, Fantini F, Battista P, Stigliano V, Messerini L, Mareni C, Sala P, Bertario L, Radice P, Cama A.

PLoS One. 2013;8(11):e81194. doi: 10.1371/journal.pone.0081194.

PubMed [citation]
PMID:
24278394
PMCID:
PMC3835792

Mismatch repair gene analysis in Catalonian families with colorectal cancer.

Palicio M, Balmaña J, González S, Blanco I, Marcuello E, Peinado MA, Julià G, Germà JR, López López JJ, Brunet J, Capellà G.

J Med Genet. 2002 Jun;39(6):E29. No abstract available.

PubMed [citation]
PMID:
12070261
PMCID:
PMC1735159

Details of each submission

From Counsyl, SCV000786595.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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