NM_000251.3(MSH2):c.1964T>C (p.Val655Ala) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 25, 2023
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- 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:
- RCV003477300.1
Allele description [Variation Report for NM_000251.3(MSH2):c.1964T>C (p.Val655Ala)]
NM_000251.3(MSH2):c.1964T>C (p.Val655Ala)
- 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.1964T>C (p.Val655Ala)
- HGVS:
- NC_000002.12:g.47475229T>C
- NG_007110.2:g.77106T>C
- NM_000251.3:c.1964T>CMANE SELECT
- NM_001258281.1:c.1766T>C
- NM_001406631.1:c.1964T>C
- NM_001406632.1:c.1964T>C
- NM_001406633.1:c.1964T>C
- NM_001406634.1:c.1964T>C
- NM_001406635.1:c.1964T>C
- NM_001406636.1:c.1931T>C
- NM_001406637.1:c.1964T>C
- NM_001406638.1:c.2003T>C
- NM_001406639.1:c.1964T>C
- NM_001406640.1:c.1964T>C
- NM_001406641.1:c.1964T>C
- NM_001406642.1:c.1964T>C
- NM_001406643.1:c.1964T>C
- NM_001406644.1:c.1964T>C
- NM_001406645.1:c.1964T>C
- NM_001406646.1:c.1964T>C
- NM_001406647.1:c.1814T>C
- NM_001406648.1:c.1964T>C
- NM_001406649.1:c.1814T>C
- NM_001406650.1:c.1814T>C
- NM_001406651.1:c.1814T>C
- NM_001406652.1:c.1814T>C
- NM_001406653.1:c.1904T>C
- NM_001406654.1:c.1544T>C
- NM_001406655.1:c.1964T>C
- NM_001406656.1:c.1067T>C
- NM_001406657.1:c.*174T>C
- NM_001406658.1:c.608T>C
- NM_001406659.1:c.608T>C
- NM_001406660.1:c.608T>C
- NM_001406661.1:c.608T>C
- NM_001406662.1:c.608T>C
- NM_001406669.1:c.608T>C
- NM_001406674.1:c.1964T>C
- NP_000242.1:p.Val655Ala
- NP_000242.1:p.Val655Ala
- NP_001245210.1:p.Val589Ala
- NP_001393560.1:p.Val655Ala
- NP_001393561.1:p.Val655Ala
- NP_001393562.1:p.Val655Ala
- NP_001393563.1:p.Val655Ala
- NP_001393564.1:p.Val655Ala
- NP_001393565.1:p.Val644Ala
- NP_001393566.1:p.Val655Ala
- NP_001393567.1:p.Val668Ala
- NP_001393568.1:p.Val655Ala
- NP_001393569.1:p.Val655Ala
- NP_001393570.1:p.Val655Ala
- NP_001393571.1:p.Val655Ala
- NP_001393572.1:p.Val655Ala
- NP_001393573.1:p.Val655Ala
- NP_001393574.1:p.Val655Ala
- NP_001393575.1:p.Val655Ala
- NP_001393576.1:p.Val605Ala
- NP_001393577.1:p.Val655Ala
- NP_001393578.1:p.Val605Ala
- NP_001393579.1:p.Val605Ala
- NP_001393580.1:p.Val605Ala
- NP_001393581.1:p.Val605Ala
- NP_001393582.1:p.Val635Ala
- NP_001393583.1:p.Val515Ala
- NP_001393584.1:p.Val655Ala
- NP_001393585.1:p.Val356Ala
- NP_001393587.1:p.Val203Ala
- NP_001393588.1:p.Val203Ala
- NP_001393589.1:p.Val203Ala
- NP_001393590.1:p.Val203Ala
- NP_001393591.1:p.Val203Ala
- NP_001393598.1:p.Val203Ala
- NP_001393603.1:p.Val655Ala
- LRG_218t1:c.1964T>C
- LRG_218:g.77106T>C
- LRG_218p1:p.Val655Ala
- NC_000002.11:g.47702368T>C
- NM_000251.2:c.1964T>C
- NR_176230.1:n.2000T>C
- NR_176231.1:n.2000T>C
- NR_176232.1:n.2000T>C
- NR_176233.1:n.1842T>C
- NR_176234.1:n.2000T>C
- NR_176235.1:n.2000T>C
- NR_176236.1:n.2000T>C
- NR_176237.1:n.2000T>C
- NR_176238.1:n.2133T>C
- NR_176239.1:n.2000T>C
- NR_176240.1:n.2000T>C
- NR_176241.1:n.2000T>C
- NR_176242.1:n.2000T>C
- NR_176243.1:n.1850T>C
- NR_176244.1:n.2000T>C
- NR_176245.1:n.2000T>C
- NR_176246.1:n.2000T>C
- NR_176247.1:n.2000T>C
- NR_176248.1:n.2000T>C
- NR_176249.1:n.2230T>C
- NR_176250.1:n.1740T>C
This HGVS expression did not pass validation- Protein change:
- V203A
- Molecular consequence:
- NM_001406657.1:c.*174T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
- NM_000251.3:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001258281.1:c.1766T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406631.1:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406632.1:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406633.1:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406634.1:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406635.1:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406636.1:c.1931T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406637.1:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406638.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406639.1:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406640.1:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406641.1:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406642.1:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406643.1:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406644.1:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406645.1:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406646.1:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406647.1:c.1814T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406648.1:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406649.1:c.1814T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406650.1:c.1814T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406651.1:c.1814T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406652.1:c.1814T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406653.1:c.1904T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406654.1:c.1544T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406655.1:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406656.1:c.1067T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406658.1:c.608T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406659.1:c.608T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406660.1:c.608T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406661.1:c.608T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406662.1:c.608T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406669.1:c.608T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001406674.1:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
- NR_176230.1:n.2000T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176231.1:n.2000T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176232.1:n.2000T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176233.1:n.1842T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176234.1:n.2000T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176235.1:n.2000T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176236.1:n.2000T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176237.1:n.2000T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176238.1:n.2133T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176239.1:n.2000T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176240.1:n.2000T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176241.1:n.2000T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176242.1:n.2000T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176243.1:n.1850T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176244.1:n.2000T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176245.1:n.2000T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176246.1:n.2000T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176247.1:n.2000T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176248.1:n.2000T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176249.1:n.2230T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_176250.1:n.1740T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV004220966 | Quest Diagnostics Nichols Institute San Juan Capistrano | criteria provided, single submitter (Quest Diagnostics criteria) | Uncertain significance (Jan 25, 2023) | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | unknown | unknown | not provided | not provided | not provided | not provided | not provided | clinical 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.
- PMID:
- 26467025
- PMCID:
- PMC4737317
Details of each submission
From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004220966.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
This variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Jan 6, 2024