NM_000249.4(MLH1):c.24T>A (p.Ile8=) AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Jul 9, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000759085.6

Allele description [Variation Report for NM_000249.4(MLH1):c.24T>A (p.Ile8=)]

NM_000249.4(MLH1):c.24T>A (p.Ile8=)

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.24T>A (p.Ile8=)
HGVS:
  • NC_000003.12:g.36993571T>A
  • NG_007109.2:g.5222T>A
  • NG_008418.1:g.4734A>T
  • NM_000249.3:c.24T>A
  • NM_000249.4:c.24T>AMANE SELECT
  • NM_001167617.3:c.-493T>A
  • NM_001167618.3:c.-922T>A
  • NM_001167619.3:c.-835T>A
  • NM_001258271.2:c.24T>A
  • NM_001258273.2:c.-609T>A
  • NM_001258274.3:c.-1072T>A
  • NM_001354615.2:c.-603T>A
  • NM_001354616.2:c.-603T>A
  • NM_001354617.2:c.-695T>A
  • NM_001354618.2:c.-927T>A
  • NM_001354619.2:c.-1051T>A
  • NM_001354620.2:c.-261T>A
  • NM_001354621.2:c.-1020T>A
  • NM_001354622.2:c.-1133T>A
  • NM_001354623.2:c.-1042T>A
  • NM_001354624.2:c.-803T>A
  • NM_001354625.2:c.-701T>A
  • NM_001354626.2:c.-798T>A
  • NM_001354627.2:c.-1030T>A
  • NM_001354628.2:c.24T>A
  • NM_001354629.2:c.24T>A
  • NM_001354630.2:c.24T>A
  • NP_000240.1:p.Ile8=
  • NP_000240.1:p.Ile8=
  • NP_001245200.1:p.Ile8=
  • NP_001341557.1:p.Ile8=
  • NP_001341558.1:p.Ile8=
  • NP_001341559.1:p.Ile8=
  • LRG_216t1:c.24T>A
  • LRG_216:g.5222T>A
  • LRG_216p1:p.Ile8=
  • NC_000003.11:g.37035062T>A
  • p.I8I
Links:
dbSNP: rs748406142
NCBI 1000 Genomes Browser:
rs748406142
Molecular consequence:
  • NM_001167617.3:c.-493T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167618.3:c.-922T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-835T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-609T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-1072T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-603T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-603T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-695T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-927T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-1051T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354620.2:c.-261T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-1020T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-1133T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.2:c.-1042T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-803T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-701T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-798T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-1030T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000249.3:c.24T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_000249.4:c.24T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001258271.2:c.24T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354628.2:c.24T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354629.2:c.24T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354630.2:c.24T>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000520531GeneDxcriteria provided, single submitter
Likely benign
(Jul 9, 2019)
germlineclinical testing

Citation Link,

SCV000888181Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Benign
(Jan 17, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
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 GeneDx, SCV000520531.5

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000888181.1

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

Last Updated: Oct 30, 2021

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