ClinVar Genomic variation as it relates to human health
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
Variation ID: 89696 Accession: VCV000089696.74
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 3p22.2 3: 37025919 (GRCh38) [ NCBI UCSC ] 3: 37067410 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 19, 2014 Oct 8, 2024 Sep 5, 2013 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_000249.4:c.1321G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000240.1:p.Ala441Thr missense NM_001167617.3:c.1027G>A NP_001161089.1:p.Ala343Thr missense NM_001167618.3:c.598G>A NP_001161090.1:p.Ala200Thr missense NM_001167619.3:c.598G>A NP_001161091.1:p.Ala200Thr missense NM_001258271.2:c.1321G>A NP_001245200.1:p.Ala441Thr missense NM_001258273.2:c.598G>A NP_001245202.1:p.Ala200Thr missense NM_001258274.3:c.598G>A NP_001245203.1:p.Ala200Thr missense NM_001354615.2:c.598G>A NP_001341544.1:p.Ala200Thr missense NM_001354616.2:c.598G>A NP_001341545.1:p.Ala200Thr missense NM_001354617.2:c.598G>A NP_001341546.1:p.Ala200Thr missense NM_001354618.2:c.598G>A NP_001341547.1:p.Ala200Thr missense NM_001354619.2:c.598G>A NP_001341548.1:p.Ala200Thr missense NM_001354620.2:c.1027G>A NP_001341549.1:p.Ala343Thr missense NM_001354621.2:c.298G>A NP_001341550.1:p.Ala100Thr missense NM_001354622.2:c.298G>A NP_001341551.1:p.Ala100Thr missense NM_001354623.2:c.298G>A NP_001341552.1:p.Ala100Thr missense NM_001354624.2:c.247G>A NP_001341553.1:p.Ala83Thr missense NM_001354625.2:c.247G>A NP_001341554.1:p.Ala83Thr missense NM_001354626.2:c.247G>A NP_001341555.1:p.Ala83Thr missense NM_001354627.2:c.247G>A NP_001341556.1:p.Ala83Thr missense NM_001354628.2:c.1321G>A NP_001341557.1:p.Ala441Thr missense NM_001354629.2:c.1222G>A NP_001341558.1:p.Ala408Thr missense NM_001354630.2:c.1321G>A NP_001341559.1:p.Ala441Thr missense NC_000003.12:g.37025919G>A NC_000003.11:g.37067410G>A NG_007109.2:g.37570G>A LRG_216:g.37570G>A LRG_216t1:c.1321G>A LRG_216p1:p.Ala441Thr P40692:p.Ala441Thr - Protein change
- A441T, A200T, A343T, A408T, A83T, A100T
- Other names
- p.A441T:GCT>ACT
- Canonical SPDI
- NC_000003.12:37025918:G:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00025
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
The Genome Aggregation Database (gnomAD) 0.00034
The Genome Aggregation Database (gnomAD), exomes 0.00034
Exome Aggregation Consortium (ExAC) 0.00039
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
MLH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
5689 | 5749 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Benign (1) |
reviewed by expert panel
|
Sep 5, 2013 | RCV000075170.10 | |
Benign (5) |
criteria provided, multiple submitters, no conflicts
|
Nov 22, 2022 | RCV000115456.15 | |
Benign (1) |
no assertion criteria provided
|
Jul 24, 2014 | RCV000144611.4 | |
Uncertain significance (1) |
no assertion criteria provided
|
Jun 1, 2014 | RCV000148618.6 | |
Conflicting interpretations of pathogenicity (5) |
criteria provided, conflicting classifications
|
Aug 15, 2023 | RCV000202064.26 | |
Conflicting interpretations of pathogenicity (5) |
criteria provided, conflicting classifications
|
Mar 16, 2023 | RCV000659870.12 | |
Benign/Likely benign (5) |
criteria provided, multiple submitters, no conflicts
|
Aug 1, 2024 | RCV000679266.40 | |
Benign (1) |
criteria provided, single submitter
|
Jan 31, 2024 | RCV001083668.10 | |
Likely benign (1) |
criteria provided, single submitter
|
Apr 14, 2023 | RCV001798259.6 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
no known pathogenicity
(Sep 05, 2013)
|
reviewed by expert panel
Method: research
|
Lynch Syndrome
Affected status: unknown
Allele origin:
germline
|
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
Accession: SCV000106161.3
First in ClinVar: Dec 19, 2013 Last updated: Dec 24, 2022
Comment:
Classified with v1.9 guidelines: https://docs.google.com/file/d/0B3JL6rP6JzhoN2EydHRVMEI1UGs
|
Comments (2):
Multifactorial likelihood analysis posterior probability <0.001
Converted during submission to Benign.
|
|
Uncertain significance
(Nov 01, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Colorectal cancer, hereditary nonpolyposis, type 2
Affected status: yes
Allele origin:
germline
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
Accession: SCV000781755.1
First in ClinVar: Jul 09, 2018 Last updated: Jul 09, 2018 |
|
|
Benign
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Colorectal cancer, hereditary nonpolyposis, type 2
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001136408.1
First in ClinVar: Jan 13, 2020 Last updated: Jan 13, 2020 |
|
|
Uncertain significance
(Mar 29, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Colorectal cancer, hereditary nonpolyposis, type 2
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001308772.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. (less)
|
|
Benign
(Jun 14, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001737682.1
First in ClinVar: Jun 23, 2021 Last updated: Jun 23, 2021 |
Comment:
Variant summary: MLH1 c.1321G>A (p.Ala441Thr) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign … (more)
Variant summary: MLH1 c.1321G>A (p.Ala441Thr) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00034 in 251274 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in MLH1 causing Hereditary Nonpolyposis Colorectal Cancer (0.00034 vs 0.00071), allowing no conclusion about variant significance. c.1321G>A has been reported in the literature in individuals affected with Hereditary Nonpolyposis Colorectal Cancer/Lynch syndrome (example Borg_2000, Cunningham_2001, Mangold_2005, Kurzawski_2006, South_2009). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Nonpolyposis Colorectal Cancer/Lynch syndrome. At-least two co-occurrences with other pathogenic variant(s) have been reported in the literature and observed in our laboratory (Borg_2000, BRCA1 3166insTGAGA; our laboratory, MSH6 c.999delC, p.Lys334fs), providing supporting evidence for a benign role. At least one publication reports experimental evidence evaluating an impact on protein function. These results showed no damaging effect of this variant on mismatch repair activity (MMR). Multiple clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 with a majority consensus leaning towards benign/likely benign (n=11). Based on the overwhelming evidence supporting a non-actionable as outlined above, the variant was classified as benign. (less)
|
|
Likely benign
(Apr 14, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV002042072.2
First in ClinVar: Jan 01, 2022 Last updated: Feb 04, 2024 |
|
|
Benign
(Jan 17, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000184608.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more)
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
|
|
Likely benign
(Aug 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001153842.26
First in ClinVar: Feb 03, 2020 Last updated: Oct 08, 2024 |
Comment:
MLH1: BP4, BS3:Supporting
Number of individuals with the variant: 13
|
|
Uncertain significance
(Jan 10, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000539641.1
First in ClinVar: Jan 07, 2017 Last updated: Jan 07, 2017 |
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or … (more)
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Two mammals and one non-mammal have a Thr at this position. It has a max MAF of 0.09% in gnomAD. It is reported in 7 papers in HGMD, classified as DM, most comments suggest VUS. It is classified in ClinVar with 3 stars as Benign by InSiGHT (expert panel) and Pathway genomics, and likely benign by GeneDx and Invitae, and as VUS by Mayo and CSER_CC_NCGL. (less)
Method: Genome/Exome Filtration
|
|
Likely benign
(Feb 28, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Colorectal cancer, hereditary nonpolyposis, type 2
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000786114.2
First in ClinVar: Jul 09, 2018 Last updated: Jul 09, 2018 |
|
|
Likely benign
(Apr 03, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000805947.1
First in ClinVar: Sep 14, 2018 Last updated: Sep 14, 2018 |
|
|
Benign
(Feb 05, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000884118.1
First in ClinVar: Sep 14, 2018 Last updated: Sep 14, 2018 |
|
|
Benign
(Oct 15, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000902604.1
First in ClinVar: May 20, 2019 Last updated: May 20, 2019 |
|
|
Likely benign
(Dec 03, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000149365.12
First in ClinVar: May 17, 2014 Last updated: Apr 09, 2018 |
Comment:
This variant is associated with the following publications: (PMID: 16042583, 16438707, 20223024, 21056691, 25637381, 11524701, 19117025, 17510385, 10709098, 22949379, 11376800, 23741719, 15849733, 9326924, 24055113, 27153395, … (more)
This variant is associated with the following publications: (PMID: 16042583, 16438707, 20223024, 21056691, 25637381, 11524701, 19117025, 17510385, 10709098, 22949379, 11376800, 23741719, 15849733, 9326924, 24055113, 27153395, 26659639, 28526081, 21404117, 18383312, 29785566, 17192056, 32547938) (less)
|
|
Benign
(May 26, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: no
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV000595807.2
First in ClinVar: Aug 27, 2017 Last updated: Jan 26, 2022 |
|
|
Benign
(Mar 04, 2021)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002528638.1
First in ClinVar: Mar 25, 2020 Last updated: Mar 25, 2020 |
|
|
Benign
(Nov 22, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
Accession: SCV002819232.1
First in ClinVar: Jan 15, 2023 Last updated: Jan 15, 2023 |
|
|
Benign
(Mar 16, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Colorectal cancer, hereditary nonpolyposis, type 2
Affected status: unknown
Allele origin:
unknown
|
Myriad Genetics, Inc.
Accession: SCV004018204.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
This variant is considered benign. This variant has been observed in trans with a known pathogenic variant in one or more individuals lacking clinical features … (more)
This variant is considered benign. This variant has been observed in trans with a known pathogenic variant in one or more individuals lacking clinical features consistent with gene-specific recessive disease. (less)
|
|
Benign
(Aug 15, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002760287.3
First in ClinVar: Dec 17, 2022 Last updated: Aug 18, 2023 |
|
|
Benign
(Nov 11, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000601351.4
First in ClinVar: Aug 27, 2017 Last updated: Jan 06, 2024 |
|
|
Benign
(Jan 31, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary nonpolyposis colorectal neoplasms
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000219061.12
First in ClinVar: Mar 29, 2015 Last updated: Feb 20, 2024 |
|
|
Benign
(Jul 24, 2014)
|
no assertion criteria provided
Method: clinical testing
|
Lynch syndrome I
Affected status: unknown
Allele origin:
germline
|
Pathway Genomics
Accession: SCV000189938.1
First in ClinVar: Oct 19, 2014 Last updated: Oct 19, 2014 |
|
|
Uncertain significance
(Jun 01, 2014)
|
no assertion criteria provided
Method: research
|
Colorectal cancer, non-polyposis
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190333.1 First in ClinVar: Dec 06, 2014 Last updated: Dec 06, 2014
Comment:
Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript
|
|
|
Uncertain significance
(-)
|
no assertion criteria provided
Method: research
|
not specified
Affected status: unknown
Allele origin:
unknown
|
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000257050.1
First in ClinVar: Nov 20, 2015 Last updated: Nov 20, 2015 |
Number of individuals with the variant: 3
|
|
Likely benign
(Aug 30, 2017)
|
no assertion criteria provided
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
True Health Diagnostics
Accession: SCV000788017.1
First in ClinVar: Dec 19, 2017 Last updated: Dec 19, 2017 |
|
|
click to load more click to collapse |
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants. | Nikitin AG | Frontiers in oncology | 2020 | PMID: 32547938 |
Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer. | Bush L | Familial cancer | 2019 | PMID: 29785566 |
Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing. | Cheng DT | BMC medical genomics | 2017 | PMID: 28526081 |
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. | Maxwell KN | American journal of human genetics | 2016 | PMID: 27153395 |
Germline Mutations in Predisposition Genes in Pediatric Cancer. | Zhang J | The New England journal of medicine | 2015 | PMID: 26580448 |
GESPA: classifying nsSNPs to predict disease association. | Khurana JK | BMC bioinformatics | 2015 | PMID: 26206375 |
Multivariate analysis as a method for evaluating the pathogenicity of novel genetic MLH1 variants in patients with colorectal cancer and microsatellite instability. | Duraturo F | International journal of molecular medicine | 2015 | PMID: 26096739 |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | Amendola LM | Genome research | 2015 | PMID: 25637381 |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | Xiong HY | Science (New York, N.Y.) | 2015 | PMID: 25525159 |
Actionable, pathogenic incidental findings in 1,000 participants' exomes. | Dorschner MO | American journal of human genetics | 2013 | PMID: 24055113 |
Development of a new, simple and cost-effective diagnostic tool for genetic screening of hereditary colorectal cancer--the DNA microarray assay. | Stojcev Z | Acta biochimica Polonica | 2013 | PMID: 23741719 |
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. | Thompson BA | Human mutation | 2013 | PMID: 22949379 |
Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. | Pal T | British journal of cancer | 2012 | PMID: 23047549 |
Classification of mismatch repair gene missense variants with PON-MMR. | Ali H | Human mutation | 2012 | PMID: 22290698 |
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. | Hardt K | Familial cancer | 2011 | PMID: 21404117 |
Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer. | Limburg PJ | Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association | 2011 | PMID: 21056691 |
Consideration of hereditary nonpolyposis colorectal cancer in BRCA mutation-negative familial ovarian cancers. | South SA | Cancer | 2009 | PMID: 19117025 |
Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? | Wimmer K | Human genetics | 2008 | PMID: 18709565 |
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). | Chao EC | Human mutation | 2008 | PMID: 18383312 |
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. | Takahashi M | Cancer research | 2007 | PMID: 17510385 |
Some aspects of molecular diagnostics in Lynch syndrome. | Kurzawski G | Hereditary cancer in clinical practice | 2006 | PMID: 20223024 |
The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome. | Lucci-Cordisco E | Cancer biomarkers : section A of Disease markers | 2006 | PMID: 17192056 |
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). | Kurzawski G | Clinical genetics | 2006 | PMID: 16451135 |
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. | Mangold E | International journal of cancer | 2005 | PMID: 15849733 |
Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review. | Mitchell RJ | American journal of epidemiology | 2002 | PMID: 12419761 |
Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. | Kurzawski G | Journal of medical genetics | 2002 | PMID: 12362047 |
Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha. | Räschle M | The Journal of biological chemistry | 2002 | PMID: 11948175 |
The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. | Cunningham JM | American journal of human genetics | 2001 | PMID: 11524701 |
Causes of microsatellite instability in colorectal tumors: implications for hereditary non-polyposis colorectal cancer screening. | Potocnik U | Cancer genetics and cytogenetics | 2001 | PMID: 11376800 |
Germline BRCA1 and HMLH1 mutations in a family with male and female breast carcinoma. | Borg A | International journal of cancer | 2000 | PMID: 10709098 |
Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1. | Wahlberg S | Genetic testing | 1999 | PMID: 10495924 |
A human compound heterozygote for two MLH1 missense mutations. | Hackman P | Nature genetics | 1997 | PMID: 9326924 |
http://www.insight-database.org/classifications/index.html?gene=MLH1&variant=c.1321G%3EA | - | - | - | - |
https://51b5adfeab56f211e45ac7c77a44963c57db9fc5.googledrive.com/host/0B8HVsr5izQxJUi1XTzEtWFlRc00/index.html?gene=MLH1&protein=&variant=1321 | - | - | - | - |
click to load more click to collapse |
Text-mined citations for rs63750365 ...
HelpRecord last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.