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NM_000249.4(MLH1):c.110A>G (p.Glu37Gly) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 29, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000985775.2

Allele description [Variation Report for NM_000249.4(MLH1):c.110A>G (p.Glu37Gly)]

NM_000249.4(MLH1):c.110A>G (p.Glu37Gly)

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.110A>G (p.Glu37Gly)
HGVS:
  • NC_000003.12:g.36993657A>G
  • NG_007109.2:g.5308A>G
  • NG_008418.1:g.4648T>C
  • NM_000249.4:c.110A>GMANE SELECT
  • NM_001167617.3:c.-407A>G
  • NM_001167618.3:c.-836A>G
  • NM_001167619.3:c.-749A>G
  • NM_001258271.2:c.110A>G
  • NM_001258273.2:c.-523A>G
  • NM_001258274.3:c.-986A>G
  • NM_001354615.2:c.-517A>G
  • NM_001354616.2:c.-517A>G
  • NM_001354617.2:c.-609A>G
  • NM_001354618.2:c.-841A>G
  • NM_001354619.2:c.-965A>G
  • NM_001354620.2:c.-175A>G
  • NM_001354621.2:c.-934A>G
  • NM_001354622.2:c.-1047A>G
  • NM_001354623.2:c.-956A>G
  • NM_001354624.2:c.-717A>G
  • NM_001354625.2:c.-615A>G
  • NM_001354626.2:c.-712A>G
  • NM_001354627.2:c.-944A>G
  • NM_001354628.2:c.110A>G
  • NM_001354629.2:c.110A>G
  • NM_001354630.2:c.110A>G
  • NP_000240.1:p.Glu37Gly
  • NP_000240.1:p.Glu37Gly
  • NP_001245200.1:p.Glu37Gly
  • NP_001341557.1:p.Glu37Gly
  • NP_001341558.1:p.Glu37Gly
  • NP_001341559.1:p.Glu37Gly
  • LRG_216t1:c.110A>G
  • LRG_216:g.5308A>G
  • LRG_216p1:p.Glu37Gly
  • NC_000003.11:g.37035148A>G
  • NM_000249.3:c.110A>G
Protein change:
E37G
Links:
dbSNP: rs876658410
NCBI 1000 Genomes Browser:
rs876658410
Molecular consequence:
  • NM_001167617.3:c.-407A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167618.3:c.-836A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-749A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-523A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-986A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-517A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-517A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-609A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-841A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-965A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354620.2:c.-175A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-934A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-1047A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.2:c.-956A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-717A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-615A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-712A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-944A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000249.4:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258271.2:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354628.2:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354629.2:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354630.2:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001134285Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Jan 29, 2019) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Economic and Practical Factors in Diagnosing HNPCC Using Clinical Criteria, Immunohistochemistry and Microsatellite Instability Analysis.

Pigatto F, Bateman A, Bunyan D, Strike P, Wilkins E, Curtis C, Duncan P, May D, Nugent K, Eccles D.

Hered Cancer Clin Pract. 2004 Nov 15;2(4):175-84. doi: 10.1186/1897-4287-2-4-175.

PubMed [citation]
PMID:
20233461
PMCID:
PMC2840004

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001134285.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024