NM_000251.3(MSH2):c.198C>T (p.Tyr66=) AND not specified
- Germline classification:
- Benign/Likely benign (4 submissions)
- Last evaluated:
- Dec 27, 2023
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000212580.13
Allele description [Variation Report for NM_000251.3(MSH2):c.198C>T (p.Tyr66=)]
NM_000251.3(MSH2):c.198C>T (p.Tyr66=)
- Gene:
- MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 2p21
- Genomic location:
- Preferred name:
- NM_000251.3(MSH2):c.198C>T (p.Tyr66=)
- Other names:
- p.Y66Y:TAC>TAT
- HGVS:
- NC_000002.12:g.47403389C>T
- NG_007110.2:g.5266C>T
- NG_095167.1:g.593C>T
- NM_000251.3:c.198C>TMANE SELECT
- NM_001258281.1:c.-1C>T
- NM_001406631.1:c.198C>T
- NM_001406632.1:c.198C>T
- NM_001406633.1:c.198C>T
- NM_001406634.1:c.198C>T
- NM_001406635.1:c.198C>T
- NM_001406636.1:c.198C>T
- NM_001406637.1:c.198C>T
- NM_001406638.1:c.198C>T
- NM_001406639.1:c.198C>T
- NM_001406640.1:c.198C>T
- NM_001406641.1:c.198C>T
- NM_001406642.1:c.198C>T
- NM_001406643.1:c.198C>T
- NM_001406644.1:c.198C>T
- NM_001406645.1:c.198C>T
- NM_001406646.1:c.198C>T
- NM_001406647.1:c.198C>T
- NM_001406648.1:c.198C>T
- NM_001406649.1:c.198C>T
- NM_001406650.1:c.198C>T
- NM_001406651.1:c.198C>T
- NM_001406652.1:c.198C>T
- NM_001406653.1:c.198C>T
- NM_001406654.1:c.-143C>T
- NM_001406655.1:c.198C>T
- NM_001406656.1:c.-798C>T
- NM_001406657.1:c.198C>T
- NM_001406658.1:c.-1121C>T
- NM_001406659.1:c.-1271C>T
- NM_001406660.1:c.-1468C>T
- NM_001406661.1:c.-1423C>T
- NM_001406662.1:c.-1340C>T
- NM_001406666.1:c.198C>T
- NM_001406669.1:c.-1271C>T
- NM_001406672.1:c.198C>T
- NM_001406674.1:c.198C>T
- NP_000242.1:p.Tyr66=
- NP_000242.1:p.Tyr66=
- NP_001393560.1:p.Tyr66=
- NP_001393561.1:p.Tyr66=
- NP_001393562.1:p.Tyr66=
- NP_001393563.1:p.Tyr66=
- NP_001393564.1:p.Tyr66=
- NP_001393565.1:p.Tyr66=
- NP_001393566.1:p.Tyr66=
- NP_001393567.1:p.Tyr66=
- NP_001393568.1:p.Tyr66=
- NP_001393569.1:p.Tyr66=
- NP_001393570.1:p.Tyr66=
- NP_001393571.1:p.Tyr66=
- NP_001393572.1:p.Tyr66=
- NP_001393573.1:p.Tyr66=
- NP_001393574.1:p.Tyr66=
- NP_001393575.1:p.Tyr66=
- NP_001393576.1:p.Tyr66=
- NP_001393577.1:p.Tyr66=
- NP_001393578.1:p.Tyr66=
- NP_001393579.1:p.Tyr66=
- NP_001393580.1:p.Tyr66=
- NP_001393581.1:p.Tyr66=
- NP_001393582.1:p.Tyr66=
- NP_001393584.1:p.Tyr66=
- NP_001393586.1:p.Tyr66=
- NP_001393595.1:p.Tyr66=
- NP_001393601.1:p.Tyr66=
- NP_001393603.1:p.Tyr66=
- LRG_218t1:c.198C>T
- LRG_218:g.5266C>T
- LRG_218p1:p.Tyr66=
- NC_000002.11:g.47630528C>T
- NM_000251.1:c.198C>T
- NM_000251.2:c.198C>T
- NM_001258281.1:c.-1C>T
- NR_176230.1:n.234C>T
- NR_176231.1:n.234C>T
- NR_176232.1:n.234C>T
- NR_176233.1:n.234C>T
- NR_176234.1:n.234C>T
- NR_176235.1:n.234C>T
- NR_176236.1:n.234C>T
- NR_176237.1:n.234C>T
- NR_176238.1:n.234C>T
- NR_176239.1:n.234C>T
- NR_176240.1:n.234C>T
- NR_176241.1:n.234C>T
- NR_176242.1:n.234C>T
- NR_176243.1:n.234C>T
- NR_176244.1:n.234C>T
- NR_176245.1:n.234C>T
- NR_176246.1:n.234C>T
- NR_176247.1:n.234C>T
- NR_176248.1:n.234C>T
- NR_176249.1:n.234C>T
- NR_176250.1:n.234C>T
- p.Y66Y
This HGVS expression did not pass validation- Links:
- dbSNP: rs730881784
- NCBI 1000 Genomes Browser:
- rs730881784
- Molecular consequence:
- NM_001258281.1:c.-1C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001406654.1:c.-143C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001406656.1:c.-798C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001406658.1:c.-1121C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001406659.1:c.-1271C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001406660.1:c.-1468C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001406661.1:c.-1423C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001406662.1:c.-1340C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001406669.1:c.-1271C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NR_176230.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176231.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176232.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176233.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176234.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176235.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176236.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176237.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176238.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176239.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176240.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176241.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176242.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176243.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176244.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176245.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176246.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176247.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176248.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176249.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176250.1:n.234C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NM_000251.3:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406631.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406632.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406633.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406634.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406635.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406636.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406637.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406638.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406639.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406640.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406641.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406642.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406643.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406644.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406645.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406646.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406647.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406648.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406649.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406650.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406651.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406652.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406653.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406655.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406657.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406666.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406672.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001406674.1:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV000211255 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification (06012015)) | Benign (Jul 28, 2014) | germline | clinical testing | |
| SCV002066720 | Genetic Services Laboratory, University of Chicago | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely benign (Dec 8, 2020) | germline | clinical testing | |
| SCV002552187 | Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely benign (Aug 15, 2023) | germline | clinical testing | |
| SCV004241702 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Likely benign (Dec 27, 2023) | germline | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | germline | no | not provided | not provided | not provided | not provided | not provided | clinical testing |
| not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
| not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
PubMed [citation]
- PMID:
- 25741868
- PMCID:
- PMC4544753
Details of each submission
From GeneDx, SCV000211255.10
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Genetic Services Laboratory, University of Chicago, SCV002066720.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | no | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002552187.4
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004241702.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
Last Updated: Nov 10, 2024