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NM_000249.3(MLH1):c.*3A>G AND Lynch syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 5, 2013
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000075055.2

Allele description

NM_000249.3(MLH1):c.*3A>G

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.3(MLH1):c.*3A>G
HGVS:
  • NC_000003.12:g.37050656A>G
  • NG_007109.2:g.62307A>G
  • NG_053016.1:g.131162T>C
  • NM_000249.3:c.*3A>G
  • NM_001167617.2:c.*3A>G
  • NM_001167618.2:c.*3A>G
  • NM_001167619.2:c.*3A>G
  • NM_001258271.1:c.*3A>G
  • NM_001258273.1:c.*3A>G
  • NM_001258274.2:c.*3A>G
  • NM_001354615.1:c.*3A>G
  • NM_001354616.1:c.*3A>G
  • NM_001354617.1:c.*3A>G
  • NM_001354618.1:c.*3A>G
  • NM_001354619.1:c.*3A>G
  • NM_001354620.1:c.*3A>G
  • NM_001354621.1:c.*3A>G
  • NM_001354622.1:c.*3A>G
  • NM_001354623.1:c.*3A>G
  • NM_001354624.1:c.*3A>G
  • NM_001354625.1:c.*3A>G
  • NM_001354626.1:c.*3A>G
  • NM_001354627.1:c.*3A>G
  • NM_001354628.1:c.*3A>G
  • NM_001354629.1:c.*3A>G
  • NM_001354630.1:c.*3A>G
  • LRG_216t1:c.*3A>G
  • LRG_216:g.62307A>G
  • NC_000003.11:g.37092147A>G
Links:
dbSNP: rs587778880
NCBI 1000 Genomes Browser:
rs587778880
Molecular consequence:
  • NM_000249.3:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001167617.2:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001167618.2:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001167619.2:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001258271.1:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001258273.1:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001258274.2:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354615.1:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354616.1:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354617.1:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354618.1:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354619.1:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354620.1:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354621.1:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354622.1:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354623.1:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354624.1:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354625.1:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354626.1:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354627.1:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354628.1:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354629.1:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354630.1:c.*3A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Lynch syndrome (HNPCC)
Synonyms:
Hereditary nonpolyposis colon cancer
Identifiers:
MedGen: C1333990; OMIM: PS120435

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000106058International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
reviewed by expert panel

(Guidelines v1.9)		Uncertain significance
(Sep 5, 2013) 		germlineresearch

Citation Link

Description

Classified with v1.9 guidelines: https://docs.google.com/file/d/0B3JL6rP6JzhoN2EydHRVMEI1UGs

SCV000106058

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000106058.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Insufficient evidence

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 26, 2019