NM_000249.4(MLH1):c.885-21TC[2] AND not specified

Clinical significance:Benign (Last evaluated: Feb 7, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000153505.3

Allele description [Variation Report for NM_000249.4(MLH1):c.885-21TC[2]]

NM_000249.4(MLH1):c.885-21TC[2]

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.4(MLH1):c.885-21TC[2]
HGVS:
  • NC_000003.12:g.37020290_37020291CT[2]
  • NG_007109.2:g.31941_31942CT[2]
  • NM_000249.4:c.885-21TC[2]MANE SELECT
  • NM_001167617.2:c.591-21TC[2]
  • NM_001167618.2:c.162-21TC[2]
  • NM_001167619.2:c.162-21TC[2]
  • NM_001258271.1:c.885-21TC[2]
  • NM_001258273.1:c.162-21TC[2]
  • NM_001258274.2:c.162-21TC[2]
  • NM_001354615.1:c.162-21TC[2]
  • NM_001354616.1:c.162-21TC[2]
  • NM_001354617.1:c.162-21TC[2]
  • NM_001354618.1:c.162-21TC[2]
  • NM_001354619.1:c.162-21TC[2]
  • NM_001354620.1:c.591-21TC[2]
  • NM_001354621.1:c.-139-21TC[2]
  • NM_001354622.1:c.-139-21TC[2]
  • NM_001354623.1:c.-139-21TC[2]
  • NM_001354624.1:c.-36-5348TC[2]
  • NM_001354625.1:c.-36-5348TC[2]
  • NM_001354626.1:c.-36-5348TC[2]
  • NM_001354627.1:c.-36-5348TC[2]
  • NM_001354628.1:c.885-21TC[2]
  • NM_001354629.1:c.786-21TC[2]
  • NM_001354630.1:c.885-21TC[2]
  • LRG_216:g.31941_31942CT[2]
  • NC_000003.11:g.37061780_37061781delTC
  • NC_000003.11:g.37061781_37061782CT[2]
  • NC_000003.12:g.37020294_37020295delCT
  • NM_000249.3:c.885-16_885-15delCT
Links:
dbSNP: rs267607804
NCBI 1000 Genomes Browser:
rs267607804
Molecular consequence:
  • NM_000249.4:c.885-21TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167617.2:c.591-21TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167618.2:c.162-21TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167619.2:c.162-21TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258271.1:c.885-21TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258273.1:c.162-21TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258274.2:c.162-21TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354615.1:c.162-21TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354616.1:c.162-21TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354617.1:c.162-21TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354618.1:c.162-21TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354619.1:c.162-21TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354620.1:c.591-21TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354621.1:c.-139-21TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354622.1:c.-139-21TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354623.1:c.-139-21TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354624.1:c.-36-5348TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354625.1:c.-36-5348TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354626.1:c.-36-5348TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354627.1:c.-36-5348TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354628.1:c.885-21TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354629.1:c.786-21TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354630.1:c.885-21TC[2] - intron variant - [Sequence Ontology: SO:0001627]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000203025EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Feb 24, 2014)
germlineclinical testing

Citation Link,

SCV000592386Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR)criteria provided, single submitter
Benign
(Mar 16, 2016)
germlineclinical testing

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

SCV000805984PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Benign
(Feb 7, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutational analysis of MLH1 and MSH2 in 25 prospectively-acquired RER+ endometrial cancers.

Kowalski LD, Mutch DG, Herzog TJ, Rader JS, Goodfellow PJ.

Genes Chromosomes Cancer. 1997 Mar;18(3):219-27.

PubMed [citation]
PMID:
9071575

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 EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000203025.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000592386.1

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

From PreventionGenetics,PreventionGenetics, SCV000805984.1

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

Last Updated: Aug 21, 2021

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