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NM_000249.4(MLH1):c.589-15C>T AND not specified

Germline classification:
Benign (3 submissions)
Last evaluated:
Aug 15, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000202179.14

Allele description [Variation Report for NM_000249.4(MLH1):c.589-15C>T]

NM_000249.4(MLH1):c.589-15C>T

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.589-15C>T
HGVS:
  • NC_000003.12:g.37011996C>T
  • NG_007109.2:g.23647C>T
  • NM_000249.4:c.589-15C>TMANE SELECT
  • NM_001167617.3:c.295-15C>T
  • NM_001167618.3:c.-135-15C>T
  • NM_001167619.3:c.-135-15C>T
  • NM_001258271.2:c.589-15C>T
  • NM_001258273.2:c.-135-15C>T
  • NM_001258274.3:c.-135-15C>T
  • NM_001354615.2:c.-135-15C>T
  • NM_001354616.2:c.-135-15C>T
  • NM_001354617.2:c.-135-15C>T
  • NM_001354618.2:c.-135-15C>T
  • NM_001354619.2:c.-135-15C>T
  • NM_001354620.2:c.295-15C>T
  • NM_001354621.2:c.-228-15C>T
  • NM_001354622.2:c.-341-15C>T
  • NM_001354623.2:c.-341-15C>T
  • NM_001354624.2:c.-238-15C>T
  • NM_001354625.2:c.-238-15C>T
  • NM_001354626.2:c.-238-15C>T
  • NM_001354627.2:c.-238-15C>T
  • NM_001354628.2:c.589-15C>T
  • NM_001354629.2:c.490-15C>T
  • NM_001354630.2:c.589-15C>T
  • LRG_216t1:c.589-15C>T
  • LRG_216:g.23647C>T
  • NC_000003.11:g.37053487C>T
  • NM_000249.3:c.589-15C>T
Links:
dbSNP: rs55658850
NCBI 1000 Genomes Browser:
rs55658850
Molecular consequence:
  • NM_000249.4:c.589-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167617.3:c.295-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167618.3:c.-135-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167619.3:c.-135-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258271.2:c.589-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258273.2:c.-135-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258274.3:c.-135-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354615.2:c.-135-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354616.2:c.-135-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354617.2:c.-135-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354618.2:c.-135-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354619.2:c.-135-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354620.2:c.295-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354621.2:c.-228-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354622.2:c.-341-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354623.2:c.-341-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354624.2:c.-238-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354625.2:c.-238-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354626.2:c.-238-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354627.2:c.-238-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354628.2:c.589-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354629.2:c.490-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354630.2:c.589-15C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000257108Mayo Clinic Laboratories, Mayo Clinic
no assertion criteria provided
Benignunknownresearch

SCV000303151PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benigngermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002552431Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Aug 15, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknown3not providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000257108.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided3not providednot providednot provided

From PreventionGenetics, part of Exact Sciences, SCV000303151.1

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

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002552431.4

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

Last Updated: Sep 29, 2024