NM_000249.4(MLH1):c.678-1G>A AND not provided

Clinical significance:Pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001724148.2

Allele description [Variation Report for NM_000249.4(MLH1):c.678-1G>A]

NM_000249.4(MLH1):c.678-1G>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.678-1G>A
HGVS:
  • NC_000003.12:g.37014431G>A
  • NG_007109.2:g.26082G>A
  • NM_000249.4:c.678-1G>AMANE SELECT
  • NM_001167617.3:c.384-1G>A
  • NM_001167618.3:c.-46-1G>A
  • NM_001167619.3:c.-46-1G>A
  • NM_001258271.2:c.678-1G>A
  • NM_001258273.2:c.-46-1G>A
  • NM_001258274.3:c.-46-1G>A
  • NM_001354615.2:c.-46-1G>A
  • NM_001354616.2:c.-46-1G>A
  • NM_001354617.2:c.-46-1G>A
  • NM_001354618.2:c.-46-1G>A
  • NM_001354619.2:c.-46-1G>A
  • NM_001354620.2:c.384-1G>A
  • NM_001354621.2:c.-140+2332G>A
  • NM_001354622.2:c.-252-1G>A
  • NM_001354623.2:c.-252-1G>A
  • NM_001354624.2:c.-149-1G>A
  • NM_001354625.2:c.-149-1G>A
  • NM_001354626.2:c.-149-1G>A
  • NM_001354627.2:c.-149-1G>A
  • NM_001354628.2:c.678-1G>A
  • NM_001354629.2:c.579-1G>A
  • NM_001354630.2:c.678-1G>A
  • LRG_216t1:c.678-1G>A
  • LRG_216:g.26082G>A
  • NC_000003.11:g.37055922G>A
  • NM_000249.3:c.678-1G>A
Links:
dbSNP: rs267607784
NCBI 1000 Genomes Browser:
rs267607784
Molecular consequence:
  • NM_001354621.2:c.-140+2332G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000249.4:c.678-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001167617.3:c.384-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001167618.3:c.-46-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001167619.3:c.-46-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001258271.2:c.678-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001258273.2:c.-46-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001258274.3:c.-46-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354615.2:c.-46-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354616.2:c.-46-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354617.2:c.-46-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354618.2:c.-46-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354619.2:c.-46-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354620.2:c.384-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354622.2:c.-252-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354623.2:c.-252-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354624.2:c.-149-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354625.2:c.-149-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354626.2:c.-149-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354627.2:c.-149-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354628.2:c.678-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354629.2:c.579-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354630.2:c.678-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001958908Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedPathogenicgermlineclinical testing

SCV001965922Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedPathogenicgermlineclinical testing

Summary from all submissions

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

Details of each submission

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001958908.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001965922.1

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

Last Updated: Nov 27, 2021

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