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NM_000249.4(MLH1):c.588+7T>C AND not specified

Germline classification:
Uncertain significance (1 submission)
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:
RCV000581569.5

Allele description [Variation Report for NM_000249.4(MLH1):c.588+7T>C]

NM_000249.4(MLH1):c.588+7T>C

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.588+7T>C
HGVS:
  • NC_000003.12:g.37011869T>C
  • NG_007109.2:g.23520T>C
  • NM_000249.4:c.588+7T>CMANE SELECT
  • NM_001167617.3:c.294+7T>C
  • NM_001167618.3:c.-136+7T>C
  • NM_001167619.3:c.-136+7T>C
  • NM_001258271.2:c.588+7T>C
  • NM_001258273.2:c.-136+7T>C
  • NM_001258274.3:c.-136+7T>C
  • NM_001354615.2:c.-136+7T>C
  • NM_001354616.2:c.-136+7T>C
  • NM_001354617.2:c.-136+7T>C
  • NM_001354618.2:c.-136+7T>C
  • NM_001354619.2:c.-136+7T>C
  • NM_001354620.2:c.294+7T>C
  • NM_001354621.2:c.-229+7T>C
  • NM_001354622.2:c.-342+7T>C
  • NM_001354623.2:c.-342+7T>C
  • NM_001354624.2:c.-239+7T>C
  • NM_001354625.2:c.-239+7T>C
  • NM_001354626.2:c.-239+7T>C
  • NM_001354627.2:c.-239+7T>C
  • NM_001354628.2:c.588+7T>C
  • NM_001354629.2:c.489+7T>C
  • NM_001354630.2:c.588+7T>C
  • LRG_216t1:c.588+7T>C
  • LRG_216:g.23520T>C
  • NC_000003.11:g.37053360T>C
  • NM_000249.3:c.588+7T>C
Links:
dbSNP: rs1553644066
NCBI 1000 Genomes Browser:
rs1553644066
Molecular consequence:
  • NM_000249.4:c.588+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167617.3:c.294+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167618.3:c.-136+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167619.3:c.-136+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258271.2:c.588+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258273.2:c.-136+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258274.3:c.-136+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354615.2:c.-136+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354616.2:c.-136+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354617.2:c.-136+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354618.2:c.-136+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354619.2:c.-136+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354620.2:c.294+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354621.2:c.-229+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354622.2:c.-342+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354623.2:c.-342+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354624.2:c.-239+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354625.2:c.-239+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354626.2:c.-239+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354627.2:c.-239+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354628.2:c.588+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354629.2:c.489+7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354630.2:c.588+7T>C - 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
SCV000691849Mayo Clinic Laboratories, Mayo Clinic
no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000691849.1

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

Last Updated: Jun 10, 2023