NM_000249.4(MLH1):c.69A>G (p.Glu23=) AND not specified

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Aug 29, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000506165.3

Allele description [Variation Report for NM_000249.4(MLH1):c.69A>G (p.Glu23=)]

NM_000249.4(MLH1):c.69A>G (p.Glu23=)

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.69A>G (p.Glu23=)
HGVS:
  • NC_000003.12:g.36993616A>G
  • NG_007109.2:g.5267A>G
  • NG_008418.1:g.4689T>C
  • NM_000249.3:c.69A>G
  • NM_000249.4:c.69A>GMANE SELECT
  • NM_001167617.3:c.-448A>G
  • NM_001167618.3:c.-877A>G
  • NM_001167619.3:c.-790A>G
  • NM_001258271.2:c.69A>G
  • NM_001258273.2:c.-564A>G
  • NM_001258274.3:c.-1027A>G
  • NM_001354615.2:c.-558A>G
  • NM_001354616.2:c.-558A>G
  • NM_001354617.2:c.-650A>G
  • NM_001354618.2:c.-882A>G
  • NM_001354619.2:c.-1006A>G
  • NM_001354620.2:c.-216A>G
  • NM_001354621.2:c.-975A>G
  • NM_001354622.2:c.-1088A>G
  • NM_001354623.2:c.-997A>G
  • NM_001354624.2:c.-758A>G
  • NM_001354625.2:c.-656A>G
  • NM_001354626.2:c.-753A>G
  • NM_001354627.2:c.-985A>G
  • NM_001354628.2:c.69A>G
  • NM_001354629.2:c.69A>G
  • NM_001354630.2:c.69A>G
  • NP_000240.1:p.Glu23=
  • NP_000240.1:p.Glu23=
  • NP_001245200.1:p.Glu23=
  • NP_001341557.1:p.Glu23=
  • NP_001341558.1:p.Glu23=
  • NP_001341559.1:p.Glu23=
  • LRG_216t1:c.69A>G
  • LRG_216:g.5267A>G
  • LRG_216p1:p.Glu23=
  • NC_000003.11:g.37035107A>G
  • p.E23E
  • p.Glu23Glu
Links:
dbSNP: rs63750555
NCBI 1000 Genomes Browser:
rs63750555
Molecular consequence:
  • NM_001167617.3:c.-448A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167618.3:c.-877A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-790A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-564A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-1027A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-558A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-558A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-650A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-882A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-1006A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354620.2:c.-216A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-975A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-1088A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.2:c.-997A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-758A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-656A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-753A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-985A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000249.3:c.69A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_000249.4:c.69A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001258271.2:c.69A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354628.2:c.69A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354629.2:c.69A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354630.2:c.69A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000601409Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(Jun 9, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000917645Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(Aug 29, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

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, SCV000601409.1

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000917645.2

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

Last Updated: Nov 27, 2021

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