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NM_000249.4(MLH1):c.637G>A (p.Val213Met) AND Lynch syndrome

Germline classification:
Benign (2 submissions)
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:
RCV000075789.9

Allele description [Variation Report for NM_000249.4(MLH1):c.637G>A (p.Val213Met)]

NM_000249.4(MLH1):c.637G>A (p.Val213Met)

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.637G>A (p.Val213Met)
Other names:
p.V213M:GTG>ATG
HGVS:
  • NC_000003.12:g.37012059G>A
  • NG_007109.2:g.23710G>A
  • NM_000249.4:c.637G>AMANE SELECT
  • NM_001167617.3:c.343G>A
  • NM_001167618.3:c.-87G>A
  • NM_001167619.3:c.-87G>A
  • NM_001258271.2:c.637G>A
  • NM_001258273.2:c.-87G>A
  • NM_001258274.3:c.-87G>A
  • NM_001354615.2:c.-87G>A
  • NM_001354616.2:c.-87G>A
  • NM_001354617.2:c.-87G>A
  • NM_001354618.2:c.-87G>A
  • NM_001354619.2:c.-87G>A
  • NM_001354620.2:c.343G>A
  • NM_001354621.2:c.-180G>A
  • NM_001354622.2:c.-293G>A
  • NM_001354623.2:c.-293G>A
  • NM_001354624.2:c.-190G>A
  • NM_001354625.2:c.-190G>A
  • NM_001354626.2:c.-190G>A
  • NM_001354627.2:c.-190G>A
  • NM_001354628.2:c.637G>A
  • NM_001354629.2:c.538G>A
  • NM_001354630.2:c.637G>A
  • NP_000240.1:p.Val213Met
  • NP_000240.1:p.Val213Met
  • NP_001161089.1:p.Val115Met
  • NP_001245200.1:p.Val213Met
  • NP_001341549.1:p.Val115Met
  • NP_001341557.1:p.Val213Met
  • NP_001341558.1:p.Val180Met
  • NP_001341559.1:p.Val213Met
  • LRG_216t1:c.637G>A
  • LRG_216:g.23710G>A
  • LRG_216p1:p.Val213Met
  • NC_000003.11:g.37053550G>A
  • NM_000249.3:c.637G>A
  • NM_001167617.1:c.343G>A
  • P40692:p.Val213Met
  • p.V213M
Protein change:
V115M
Links:
UniProtKB: P40692#VAR_012910; dbSNP: rs2308317
NCBI 1000 Genomes Browser:
rs2308317
Molecular consequence:
  • NM_001167618.3:c.-87G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-87G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-87G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-87G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-87G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-87G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-87G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-87G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-87G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-180G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-293G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.2:c.-293G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-190G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-190G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-190G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-190G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000249.4:c.637G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167617.3:c.343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258271.2:c.637G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354620.2:c.343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354628.2:c.637G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354629.2:c.538G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354630.2:c.637G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lynch syndrome
Identifiers:
MONDO: MONDO:0005835; MedGen: C4552100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000106799International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
reviewed by expert panel

(Guidelines v1.9)		no known pathogenicity
(Sep 5, 2013) 		germlineresearch

Citation Link,

SCV000257653Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
criteria provided, single submitter

(DGD Variant Analysis Guidelines)		Benign
(Jun 8, 2015) 		unknownclinical testing

DGD_Variant_Analysis_Guidelines.docx

Citation Link

Help

Summary from all submissions

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

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000106799.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Multifactorial likelihood analysis posterior probability <0.001

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

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000257653.2

#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: May 12, 2024