NM_000249.4(MLH1):c.884+16A>G AND Lynch syndrome II

Clinical significance:Likely benign (Last evaluated: Aug 31, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000411740.1

Allele description [Variation Report for NM_000249.4(MLH1):c.884+16A>G]

NM_000249.4(MLH1):c.884+16A>G

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.884+16A>G
HGVS:
  • NC_000003.12:g.37017615A>G
  • NG_007109.2:g.29266A>G
  • NM_000249.4:c.884+16A>GMANE SELECT
  • NM_001167617.3:c.590+16A>G
  • NM_001167618.3:c.161+16A>G
  • NM_001167619.3:c.161+16A>G
  • NM_001258271.2:c.884+16A>G
  • NM_001258273.2:c.161+16A>G
  • NM_001258274.3:c.161+16A>G
  • NM_001354615.2:c.161+16A>G
  • NM_001354616.2:c.161+16A>G
  • NM_001354617.2:c.161+16A>G
  • NM_001354618.2:c.161+16A>G
  • NM_001354619.2:c.161+16A>G
  • NM_001354620.2:c.590+16A>G
  • NM_001354621.2:c.-139-2695A>G
  • NM_001354622.2:c.-139-2695A>G
  • NM_001354623.2:c.-139-2695A>G
  • NM_001354624.2:c.-37+3071A>G
  • NM_001354625.2:c.-37+3071A>G
  • NM_001354626.2:c.-37+3071A>G
  • NM_001354627.2:c.-37+3071A>G
  • NM_001354628.2:c.884+16A>G
  • NM_001354629.2:c.785+16A>G
  • NM_001354630.2:c.884+16A>G
  • LRG_216t1:c.884+16A>G
  • LRG_216:g.29266A>G
  • NC_000003.11:g.37059106A>G
  • NM_000249.3:c.884+16A>G
Links:
dbSNP: rs377598055
NCBI 1000 Genomes Browser:
rs377598055
Molecular consequence:
  • NM_000249.4:c.884+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167617.3:c.590+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167618.3:c.161+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167619.3:c.161+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258271.2:c.884+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258273.2:c.161+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258274.3:c.161+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354615.2:c.161+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354616.2:c.161+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354617.2:c.161+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354618.2:c.161+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354619.2:c.161+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354620.2:c.590+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354621.2:c.-139-2695A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354622.2:c.-139-2695A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354623.2:c.-139-2695A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354624.2:c.-37+3071A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354625.2:c.-37+3071A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354626.2:c.-37+3071A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354627.2:c.-37+3071A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354628.2:c.884+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354629.2:c.785+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354630.2:c.884+16A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Lynch syndrome II (HNPCC2)
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; MLH1-Related Hereditary Non-Polyposis Colon Cancer; MLH1-Related Lynch Syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012249; MedGen: C1333991; Orphanet: 144; OMIM: 609310

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000489196Counsylcriteria provided, single submitter
Likely benign
(Aug 31, 2016)
unknownclinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000489196.1

#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: Nov 27, 2021

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