NM_000249.4(MLH1):c.647T>A (p.Ile216Asn) AND Lynch-like syndrome

Clinical significance:Likely pathogenic (Last evaluated: Jul 1, 2019)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001249937.2

Allele description [Variation Report for NM_000249.4(MLH1):c.647T>A (p.Ile216Asn)]

NM_000249.4(MLH1):c.647T>A (p.Ile216Asn)

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.647T>A (p.Ile216Asn)
HGVS:
  • NC_000003.12:g.37012069T>A
  • NG_007109.2:g.23720T>A
  • NM_000249.4:c.647T>AMANE SELECT
  • NM_001167617.2:c.353T>A
  • NM_001167618.2:c.-77T>A
  • NM_001167619.2:c.-77T>A
  • NM_001258271.1:c.647T>A
  • NM_001258273.1:c.-77T>A
  • NM_001258274.2:c.-77T>A
  • NM_001354615.1:c.-77T>A
  • NM_001354616.1:c.-77T>A
  • NM_001354617.1:c.-77T>A
  • NM_001354618.1:c.-77T>A
  • NM_001354619.1:c.-77T>A
  • NM_001354620.1:c.353T>A
  • NM_001354621.1:c.-170T>A
  • NM_001354622.1:c.-283T>A
  • NM_001354623.1:c.-283T>A
  • NM_001354624.1:c.-180T>A
  • NM_001354625.1:c.-180T>A
  • NM_001354626.1:c.-180T>A
  • NM_001354627.1:c.-180T>A
  • NM_001354628.1:c.647T>A
  • NM_001354629.1:c.548T>A
  • NM_001354630.1:c.647T>A
  • NP_000240.1:p.Ile216Asn
  • NP_001161089.1:p.Ile118Asn
  • NP_001245200.1:p.Ile216Asn
  • NP_001341549.1:p.Ile118Asn
  • NP_001341557.1:p.Ile216Asn
  • NP_001341558.1:p.Ile183Asn
  • NP_001341559.1:p.Ile216Asn
  • LRG_216t1:c.647T>A
  • LRG_216:g.23720T>A
  • NC_000003.11:g.37053560T>A
  • NM_000249.3:c.647T>A
Protein change:
I118N
Molecular consequence:
  • NM_001167618.2:c.-77T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.2:c.-77T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.1:c.-77T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.2:c.-77T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.1:c.-77T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.1:c.-77T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.1:c.-77T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.1:c.-77T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.1:c.-77T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.1:c.-170T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.1:c.-283T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.1:c.-283T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.1:c.-180T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.1:c.-180T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.1:c.-180T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.1:c.-180T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000249.4:c.647T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167617.2:c.353T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258271.1:c.647T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354620.1:c.353T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354628.1:c.647T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354629.1:c.548T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354630.1:c.647T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lynch-like syndrome
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001423879Constitutional Genetics Lab,Leon Berard Cancer Centerno assertion criteria providedLikely pathogenic
(Jul 1, 2019)
somaticclinical testing

Summary from all submissions

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

Details of each submission

From Constitutional Genetics Lab,Leon Berard Cancer Center, SCV001423879.2

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

Last Updated: Oct 29, 2020

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