ClinVar Genomic variation as it relates to human health
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance(5); Benign(2); Likely benign(10)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
Variation ID: 127780 Accession: VCV000127780.41
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7p22.1 7: 5977683 (GRCh38) [ NCBI UCSC ] 7: 6017314 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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 Jan 9, 2017 May 1, 2024 Feb 16, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000535.7:c.2350G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000526.2:p.Asp784Asn missense NM_001322003.2:c.1945G>A NP_001308932.1:p.Asp649Asn missense NM_001322004.2:c.1945G>A NP_001308933.1:p.Asp649Asn missense NM_001322005.2:c.1945G>A NP_001308934.1:p.Asp649Asn missense NM_001322006.2:c.2194G>A NP_001308935.1:p.Asp732Asn missense NM_001322007.2:c.2032G>A NP_001308936.1:p.Asp678Asn missense NM_001322008.2:c.2032G>A NP_001308937.1:p.Asp678Asn missense NM_001322009.2:c.1978G>A NP_001308938.1:p.Asp660Asn missense NM_001322010.2:c.1789G>A NP_001308939.1:p.Asp597Asn missense NM_001322011.2:c.1417G>A NP_001308940.1:p.Asp473Asn missense NM_001322012.2:c.1417G>A NP_001308941.1:p.Asp473Asn missense NM_001322013.2:c.1777G>A NP_001308942.1:p.Asp593Asn missense NM_001322014.2:c.2383G>A NP_001308943.1:p.Asp795Asn missense NM_001322015.2:c.2041G>A NP_001308944.1:p.Asp681Asn missense NR_136154.1:n.2394G>A non-coding transcript variant NC_000007.14:g.5977683C>T NC_000007.13:g.6017314C>T NG_008466.1:g.36424G>A LRG_161:g.36424G>A LRG_161t1:c.2350G>A - Protein change
- D784N, D678N, D795N, D593N, D597N, D649N, D681N, D732N, D473N, D660N
- Other names
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- Canonical SPDI
- NC_000007.14:5977682:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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0.00439 (T)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD), exomes 0.00114
Exome Aggregation Consortium (ExAC) 0.00142
The Genome Aggregation Database (gnomAD) 0.00192
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00208
1000 Genomes Project 30x 0.00422
1000 Genomes Project 0.00439
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 | ||
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HI score
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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. |
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PMS2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
5155 | 5249 |
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. |
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Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
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Jan 5, 2024 | RCV000115684.11 | |
Likely benign (1) |
criteria provided, single submitter
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Feb 1, 2024 | RCV000206341.11 | |
Likely benign (4) |
criteria provided, multiple submitters, no conflicts
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Aug 15, 2023 | RCV000212871.14 | |
Conflicting interpretations of pathogenicity (5) |
criteria provided, conflicting classifications
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Aug 22, 2023 | RCV000411108.16 | |
Uncertain significance (1) |
criteria provided, single submitter
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May 23, 2017 | RCV000515369.4 | |
Uncertain significance (1) |
no assertion criteria provided
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- | RCV001355417.3 | |
Uncertain significance (1) |
criteria provided, single submitter
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Sep 15, 2023 | RCV000759201.7 | |
PMS2-related disorder
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Uncertain significance (1) |
criteria provided, single submitter
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Feb 16, 2024 | RCV003415891.5 |
Likely benign (1) |
criteria provided, single submitter
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Apr 26, 2023 | RCV003149800.4 |
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. |
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Likely benign
(Jan 17, 2018)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000149593.13
First in ClinVar: May 17, 2014 Last updated: Apr 09, 2018 |
Comment:
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 … (more)
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. (less)
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Likely benign
(Jan 12, 2018)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome 4
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV001322354.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. (less)
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Uncertain significance
(Sep 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000888406.5
First in ClinVar: Mar 15, 2019 Last updated: Jan 06, 2024 |
Comment:
In the published literature, this variant has been reported in individuals with ovarian cancer (PMID: 30093976 (2018)), suspected Lynch syndrome (PMID: 25980754 (2015)), and breast … (more)
In the published literature, this variant has been reported in individuals with ovarian cancer (PMID: 30093976 (2018)), suspected Lynch syndrome (PMID: 25980754 (2015)), and breast cancer (PMIDs: 25186627 (2015), 32039725 (2020), 32959997 (2020), and 33471991 (2021); LOVD (https://databases.lovd.nl/shared/)). In addition, this variant has been observed in healthy cancer-free individuals (PMIDs: 31422574 (2019) and 33471991 (2021); LOVD (https://databases.lovd.nl/shared/)). The frequency of this variant in the general population is reported to be higher than would generally be expected for disease-associated PMS2 variants (Genome Aggregate Database http://gnomad.broadinstitute.org). However, frequency information may be unreliable in this region due to high homology with the PMS2 pseudogene PMS2CL. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant. (less)
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Likely benign
(Apr 26, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV003838381.2
First in ClinVar: Mar 11, 2023 Last updated: Feb 04, 2024 |
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Likely benign
(Feb 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary nonpolyposis colorectal neoplasms
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000261566.9
First in ClinVar: Jan 31, 2016 Last updated: Feb 20, 2024 |
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Uncertain significance
(Feb 16, 2024)
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criteria provided, single submitter
Method: clinical testing
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PMS2-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004113676.2
First in ClinVar: Nov 20, 2023 Last updated: Mar 16, 2024 |
Comment:
The PMS2 c.2350G>A variant is predicted to result in the amino acid substitution p.Asp784Asn. This variant has been reported in individuals with breast and/or ovarian … (more)
The PMS2 c.2350G>A variant is predicted to result in the amino acid substitution p.Asp784Asn. This variant has been reported in individuals with breast and/or ovarian cancer (Tung et al. 2015. PubMed ID: 25186627; da Costa et al. 2020. PubMed ID: 32039725), in individuals with Lynch syndrome-related cancer and/or colorectal polyps (Yurgelun et al. 2015. PubMed ID: 25980754, Table S2; Chen et al. 2018. PubMed ID: 30093976, Table S2; Li et al. 2019. PubMed ID: 31391288, Table S5), and in two individuals from a non-cancer exome sequencing cohort assessing secondary findings (Dennis et al. 2019. PubMed ID: 31422574, Table S2). This variant is reported in 0.65% of alleles in individuals of African descent in gnomAD. However, gnomAD data should be interpreted with caution due to parology with the PMS2 pseudogene PMS2CL. In ClinVar, this variant has conflicting interpretations of likely benign and uncertain significance (https://www.ncbi.nlm.nih.gov/clinvar/variation/127780/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. (less)
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Uncertain significance
(May 23, 2017)
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criteria provided, single submitter
Method: clinical testing
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Mismatch repair cancer syndrome 1
Lynch syndrome 4
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000611423.1
First in ClinVar: Nov 11, 2017 Last updated: Nov 11, 2017 |
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Likely benign
(Sep 28, 2020)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000918050.3
First in ClinVar: Jun 02, 2019 Last updated: Oct 08, 2020 |
Comment:
Variant summary: PMS2 c.2350G>A (p.Asp784Asn) results in a conservative amino acid change located in the C-terminal dimerization domain (IPR014790) of the encoded protein sequence. Three … (more)
Variant summary: PMS2 c.2350G>A (p.Asp784Asn) results in a conservative amino acid change located in the C-terminal dimerization domain (IPR014790) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0012 in 280910 control chromosomes, predominantly within the African- and South Asian subpopulation (at a frequency of 0.0065 and 0.005, respectively) in the gnomAD database, including 11 homozygotes. The observed variant frequency within African control individuals in the gnomAD database is approximately 90-fold of the estimated maximal expected allele frequency for a pathogenic variant in PMS2 causing Hereditary Nonpolyposis Colorectal Cancer phenotype (7.1e-05), strongly suggesting that the variant is a benign polymorphism. The variant, c.2350G>A, has been reported in the literature in an individual with suspected Lynch Syndrome (e.g. Yurgelun_2015, Li_2020), and other individuals with breast- and/or ovarian cancer (e.g. Tung_2014, Chan_2018, da Costa 2020). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Nonpolyposis Colorectal Cancer. Co-occurrences with another pathogenic PSM2 variant has been reported (PMS2 c.2186_2187delTC, p.Leu729fsX6; in our internal database), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Eight other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Multiple laboratories reported the variant with conflicting assessments (VUS 5x, likely benign 3x). Based on the evidence outlined above, the variant was classified as likely benign. (less)
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Likely benign
(Nov 30, 2021)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: no
Allele origin:
germline
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Genetic Services Laboratory, University of Chicago
Accession: SCV002070521.1
First in ClinVar: Jan 29, 2022 Last updated: Jan 29, 2022 |
Comment:
This sequence change does not appear to have been previously described in patients with PMS2-related disorders. Due to high homology with other regions of the … (more)
This sequence change does not appear to have been previously described in patients with PMS2-related disorders. Due to high homology with other regions of the genome, the information regarding this sequence change in the population databases such as ExAC and gnomAD may not reliable. The p.Asp784Asn change affects a moderately conserved amino acid residue located in a domain of the PMS2 protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Asp784Asn substitution. Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Asp784Asn change remains unknown at this time. (less)
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Likely benign
(Apr 01, 2021)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Sema4, Sema4
Accession: SCV002530297.1
First in ClinVar: Mar 25, 2020 Last updated: Mar 25, 2020 |
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Benign
(Oct 15, 2020)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome 4
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Genetics and Molecular Pathology, SA Pathology
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002556599.2
First in ClinVar: Aug 08, 2022 Last updated: Dec 17, 2022 |
Comment:
.The PMS2 c.2350G>A variant is classified as Benign (BS2)
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Uncertain significance
(Jun 01, 2016)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome 4
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000488706.2
First in ClinVar: Jan 09, 2017 Last updated: Dec 24, 2022 |
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Likely benign
(Apr 05, 2023)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome 4
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV004019885.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
This variant is considered likely benign. Homozygosity for this variant has been confirmed in one or more individuals lacking clinical features consistent with gene-specific recessive … (more)
This variant is considered likely benign. Homozygosity for this variant has been confirmed in one or more individuals lacking clinical features consistent with gene-specific recessive disease, indicating that this variant is unlikely to be pathogenic. (less)
|
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Likely benign
(Aug 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002550682.3
First in ClinVar: Jul 27, 2022 Last updated: Aug 18, 2023 |
|
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Benign
(Aug 22, 2023)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome 4
Affected status: unknown
Allele origin:
germline
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Mendelics
Accession: SCV001137278.2
First in ClinVar: Jan 09, 2020 Last updated: Aug 25, 2023 |
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Uncertain significance
(Jan 05, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV004359006.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces aspartic acid with asparagine at codon 784 of the PMS2 protein. Computational prediction suggests that this variant may not impact protein … (more)
This missense variant replaces aspartic acid with asparagine at codon 784 of the PMS2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with Lynch syndrome (PMID: 25980754) and breast/ovarian cancer (PMID: 25186627, 32039725, 32959997). This variant has been identified in 278/244936 chromosomes in the general population by the Genome Aggregation Database (gnomAD). However, this observed allele frequency is not considered reliable, because the gnomAD dataset does not disambiguate possible interference from homologous sequences in the PMS2CL pseudogene. The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
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Likely benign
(Mar 29, 2019)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000185087.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely 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)
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Uncertain significance
(-)
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no assertion criteria provided
Method: clinical testing
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Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001550298.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The PMS2 p.Asp784Asn variant was identified in 1 of 2520 proband chromosomes (frequency: 0.0004) from individuals or families with Lynch syndrome (Yurgelun 2015). The variant … (more)
The PMS2 p.Asp784Asn variant was identified in 1 of 2520 proband chromosomes (frequency: 0.0004) from individuals or families with Lynch syndrome (Yurgelun 2015). The variant was also identified in dbSNP (ID: rs143340522) as “With Uncertain significance allele”, and in the ClinVar and Clinvitae databases (4x classified as uncertain significance by GeneDx, Ambry Genetics, Invitae, and Counsyl). The variant was not identified in the following databases: COSMIC, MutDB, Insight Colon Cancer, Zhejiang Colon Cancer, Mismatch Repair or Insight Hereditary Tumors. The variant was identified in control databases in 278 of 244936 chromosomes at a frequency of 0.001 in the following populations: African in 106 of 15244 chromosomes (freq. 0.007, 4 homozygous); South Asian in 150 of 30678 chromosomes (freq. 0.005, 4 homozygous); population listed as “other” in 3 of 5468 chromosomes (freq. 0.0005, 1 homozygous); Latino in 9 of 33564 chromosomes (freq. 0.0003); East Asian in 2 of 17174 chromosomes (freq. 0.0001) and European non-Finnish in 8 of 110786 chromosomes (freq. 0.00007) increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Consortium Feb 27, 2017), however population data in this region of PMS2 are not considered reliable due to high pseudogene homology. The p.Asp784Asn residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and 1 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. The variant is located with the MutL, C-terminal, dimerisation functional domain. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. (less)
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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 |
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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 |
Screening of germline mutations in young Rwandan patients with breast cancers. | Uyisenga JP | Molecular genetics & genomic medicine | 2020 | PMID: 32959997 |
Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population. | da Costa E Silva Carvalho S | BMC medical genomics | 2020 | PMID: 32039725 |
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity. | Li S | Journal of medical genetics | 2020 | PMID: 31391288 |
Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort. | Kraemer D | Swiss medical weekly | 2019 | PMID: 31422574 |
Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers. | Chan GHJ | Oncotarget | 2018 | PMID: 30093976 |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. | Yurgelun MB | Gastroenterology | 2015 | PMID: 25980754 |
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. | Tung N | Cancer | 2015 | PMID: 25186627 |
Text-mined citations for rs143340522 ...
HelpRecord last updated May 19, 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.