ClinVar Genomic variation as it relates to human health
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
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(11); Likely benign(6)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_002485.5(NBN):c.628G>T (p.Val210Phe)
Variation ID: 127014 Accession: VCV000127014.69
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 8q21.3 8: 89971247 (GRCh38) [ NCBI UCSC ] 8: 90983475 (GRCh37) [ NCBI UCSC ] 8: 91052651 (NCBI36) [ 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 Apr 24, 2014 Mar 16, 2024 Jan 31, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_002485.5:c.628G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_002476.2:p.Val210Phe missense NM_001024688.3:c.382G>T NP_001019859.1:p.Val128Phe missense NC_000008.11:g.89971247C>A NC_000008.10:g.90983475C>A NC_000008.9:g.91052651C>A NG_008860.1:g.18425G>T LRG_158:g.18425G>T LRG_158t1:c.628G>T LRG_158p1:p.Val210Phe O60934:p.Val210Phe - Protein change
- V210F, V128F
- Other names
- p.V210F:GTT>TTT
- Canonical SPDI
- NC_000008.11:89971246:C:A
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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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0.00020 (A)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
1000 Genomes Project 30x 0.00016
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00040
The Genome Aggregation Database (gnomAD) 0.00047
Exome Aggregation Consortium (ExAC) 0.00048
Trans-Omics for Precision Medicine (TOPMed) 0.00055
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00100
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
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. |
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NBN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3346 | 3516 |
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 (7) |
criteria provided, conflicting classifications
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Feb 6, 2023 | RCV000114880.34 | |
Likely benign (2) |
criteria provided, multiple submitters, no conflicts
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Dec 27, 2021 | RCV000115801.13 | |
Conflicting interpretations of pathogenicity (4) |
criteria provided, conflicting classifications
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Jul 17, 2023 | RCV000121622.27 | |
Conflicting interpretations of pathogenicity (6) |
criteria provided, conflicting classifications
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Jan 31, 2024 | RCV000168062.36 | |
Uncertain significance (1) |
criteria provided, single submitter
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May 23, 2017 | RCV000515300.6 | |
Uncertain significance (1) |
no assertion criteria provided
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- | RCV001358247.5 | |
Uncertain significance (1) |
criteria provided, single submitter
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Jan 22, 2024 | RCV003891593.1 |
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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Uncertain significance
(Jan 30, 2015)
|
criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Genetic Services Laboratory, University of Chicago
Accession: SCV000248140.1
First in ClinVar: Oct 05, 2015 Last updated: Oct 05, 2015 |
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Uncertain significance
(Mar 25, 2019)
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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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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001157433.1
First in ClinVar: Feb 09, 2020 Last updated: Feb 09, 2020 |
Comment:
The NBN c.628G>T; p.Val210Phe variant (rs61754796) is reported in the literature in individuals with melanoma, acute lymphoblastic leukemia, breast or ovarian cancer (Dominguez-Valentin 2018, Mateju … (more)
The NBN c.628G>T; p.Val210Phe variant (rs61754796) is reported in the literature in individuals with melanoma, acute lymphoblastic leukemia, breast or ovarian cancer (Dominguez-Valentin 2018, Mateju 2012, Meyer 2007, Mosor 2006, Ramus 2015, Steffen 2006, Varon 2001), but is also reported in controls (Mateju 2012, Offer 2010, Ramus 2015). This variant is also found in the general population with an overall allele frequency of 0.04% (115/282316 alleles) in the Genome Aggregation Database. This variant is classified as uncertain by multiple laboratories in ClinVar (Variation ID: 127014). The valine at codon 210 is weakly conserved, but computational analyses (SIFT: Damaging, PolyPhen-2: Benign) predict conflicting effects of this variant on protein structure/function. Based on available information, the clinical significance of this variant is uncertain at this time. REFERENCES Dominguez-Valentin M et al. Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds. Hered Cancer Clin Pract. 2018 Jan 15;16:4. Mateju M et al. Germline mutations 657del5 and 643C>T (R215W) in NBN are not likely to be associated with increased risk of breast cancer in Czech women. Breast Cancer Res Treat. 2012 Jun;133(2):809-11. Meyer P et al. Molecular genetic analysis of NBS1 in German melanoma patients. Melanoma Res. 2007 Apr;17(2):109-16. Mosor M et al. Association of the heterozygous germline I171V mutation of the NBS1 gene with childhood acute lymphoblastic leukemia. Leukemia. 2006 Aug;20(8):1454-6. Offer SM et al. Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID. PLoS One. 2010 Aug 18;5(8):e12260. Ramus SJ et al. Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. J Natl Cancer Inst. 2015 Aug 27;107(11). Steffen J et al. Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland. Int J Cancer. 2006 Jul 15;119(2):472-5. Varon R et al. Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). Cancer Res. 2001 May 1;61(9):3570-2. (less)
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Uncertain significance
(Aug 29, 2017)
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criteria provided, single submitter
Method: clinical testing
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Microcephaly, normal intelligence and immunodeficiency
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV001323246.1
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)
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Uncertain significance
(Nov 07, 2021)
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criteria provided, single submitter
Method: clinical testing
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Microcephaly, normal intelligence and immunodeficiency
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV002045957.1
First in ClinVar: Jan 03, 2022 Last updated: Jan 03, 2022 |
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Uncertain significance
(Jan 12, 2022)
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criteria provided, single submitter
Method: clinical testing
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Microcephaly, normal intelligence and immunodeficiency
Affected status: yes
Allele origin:
unknown
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Baylor Genetics
Study: CSER-TexasKidsCanSeq
Accession: SCV001481562.3 First in ClinVar: Feb 27, 2021 Last updated: Feb 13, 2022 |
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
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Likely benign
(Dec 27, 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: SCV002536699.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
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Likely benign
(Oct 09, 2018)
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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: SCV000185891.7
First in ClinVar: Aug 06, 2014 Last updated: Nov 29, 2022 |
Comment:
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, … (more)
This alteration is classified as likely benign based on a combination of the following: 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)
Number of individuals with the variant: 1
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Uncertain significance
(Jul 02, 2018)
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criteria provided, single submitter
Method: clinical testing
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Microcephaly, normal intelligence and immunodeficiency
Affected status: unknown
Allele origin:
unknown
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Mendelics
Accession: SCV000838312.2
First in ClinVar: Oct 10, 2018 Last updated: Dec 11, 2022 |
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Likely benign
(Aug 19, 2021)
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criteria provided, single submitter
Method: clinical testing
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Microcephaly, normal intelligence and immunodeficiency
Affected status: unknown
Allele origin:
germline
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St. Jude Molecular Pathology, St. Jude Children's Research Hospital
Accession: SCV002012454.2
First in ClinVar: Nov 11, 2021 Last updated: Dec 24, 2022 |
Comment:
The NBN c.628G>T (p.Val210Phe) missense change has a maximum subpopulation frequency of 0.076% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/8-90983475-C-A). Five of seven in silico tools predict a … (more)
The NBN c.628G>T (p.Val210Phe) missense change has a maximum subpopulation frequency of 0.076% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/8-90983475-C-A). Five of seven in silico tools predict a benign effect of this variant on protein function (BP4), but to our knowledge these predictions have not been confirmed by functional assays. This variant is present 16x in the FLOSSIES database which contains genetic variants from women older than 70 years of age who have never had cancer (BS2; https://whi.color.com/variant/8-90983475-C-A). In summary, this variant meets criteria to be classified as likely benign based on the ACMG/AMP criteria: BS2, BP4. (less)
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Likely benign
(Jan 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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Microcephaly, normal intelligence and immunodeficiency
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000218716.14
First in ClinVar: Mar 29, 2015 Last updated: Feb 20, 2024 |
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Uncertain significance
(May 23, 2017)
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criteria provided, single submitter
Method: clinical testing
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Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia Acute lymphoid leukemia
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000611491.1
First in ClinVar: Nov 11, 2017 Last updated: Nov 11, 2017 |
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Uncertain significance
(Jan 24, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: unknown
Allele origin:
germline
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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV002540959.1
First in ClinVar: Jul 09, 2022 Last updated: Jul 09, 2022 |
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Uncertain significance
(Jan 12, 2023)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000149710.19
First in ClinVar: Apr 24, 2014 Last updated: Jan 21, 2023 |
Comment:
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with a personal or family history of … (more)
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with a personal or family history of breast, ovarian, and other cancers (Varon et al., 2001; Mosor et al., 2006; Steffen et al., 2006; Meyer et al., 2007; Mateju et al., 2012; Damiola et al., 2014; Ramus et al., 2015; Bueno et al., 2016; Hauke et al., 2018; Zuntini et al., 2021); In a breast cancer case-control analysis, this variant was not observed at a higher frequency in cases vs. controls (Zuntini et al., 2021); Published functional studies suggest a potential impact on DNA repair ability (Zuntini et al., 2021); This variant is associated with the following publications: (PMID: 19452044, 26787654, 16810201, 29522266, 32668560, 24894818, 11325820, 16770759, 24728327, 17496786, 20805886, 22491912, 24396275, 26928227, 26315354, 28873162, 29371908, 12353271, 26564480, 18606567, 29641532, 29844865, 31278556, 19804756, 34426522, 34072463, 30306255, 31780696, 31874108) (less)
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Uncertain significance
(Nov 03, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
germline
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Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV002010435.3
First in ClinVar: Nov 06, 2021 Last updated: Jul 16, 2023 |
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Likely benign
(Jul 17, 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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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697975.5
First in ClinVar: Apr 24, 2014 Last updated: Aug 26, 2023 |
Comment:
Variant summary: NBN c.628G>T (p.Val210Phe) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign … (more)
Variant summary: NBN c.628G>T (p.Val210Phe) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0004 in 267128 control chromosomes, predominantly at a frequency of 0.00077 within the Non-Finnish European subpopulation in the gnomAD database. The observed variant frequency within Non-Finnish European control individuals in the gnomAD database is approximately 6-fold of the estimated maximal expected allele frequency for a pathogenic variant in NBN causing Hereditary Breast And Ovarian Cancer (HBOC) Syndrome phenotype (0.00013), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Non-Finnish European origin. c.628G>T has been reported in the literature in individuals affected with cancer including HBOC and Acute Lymphoblastic Leukemia (e.g., Varon_2001, Mosor_2006, Steffen_2006, Mateju_2012, Damiola_2015, Ramus_2015, Bonache_2018, Dominguez-Valentin_2018, Hauke_2018, Dutil_2019, Zuntini_2021), but has also been reported in controls (e.g., Mateju_2012, Ramus_2015). These reports therefore do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. A co-occurrence with a pathogenic variant has been observed by our lab (BRCA2 c.9027delT, p.His3010IlefsX18; Internal testing), providing supporting evidence for a benign role. The variant was also reported in 16 women older than age 70 years who have never had cancer (FLOSSIES database) providing further evidence for a benign role. At least one publication reports experimental evidence evaluating an impact on protein function, however, does not allow convincing conclusions about the variant effect (e.g., Zuntini_2021). The following publications have been ascertained in the context of this evaluation (PMID: 24728327, 30306255, 12353271, 26564480, 29371908, 31780696, 29522266, 22491912, 31874108, 16810201, 32668560, 26315354, 16770759, 11325820, 26787654, 34072463). Multiple ClinVar submitters (evaluation after 2014) have reported the variant; eleven submitters cited the variant as uncertain significance and six submitters cited it as likely benign. Based on the evidence outlined above, the variant was classified as likely benign. (less)
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Likely benign
(Feb 06, 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: SCV000601697.5
First in ClinVar: Sep 28, 2017 Last updated: Jan 06, 2024 |
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Uncertain significance
(Jan 22, 2024)
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criteria provided, single submitter
Method: clinical testing
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NBN-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV000806446.2
First in ClinVar: Sep 13, 2018 Last updated: Mar 16, 2024 |
Comment:
The NBN c.628G>T variant is predicted to result in the amino acid substitution p.Val210Phe. This variant has been reported in individuals with a history of … (more)
The NBN c.628G>T variant is predicted to result in the amino acid substitution p.Val210Phe. This variant has been reported in individuals with a history of acute lymphoblastic leukemia, breast cancer, and ovarian cancer (Mosor et al. 2006. PubMed ID: 16810201; Varon et al. 2001. PubMed ID: 11325820; Mateju et al. 2012. PubMed ID: 22491912; Steffen et al. 2006. PubMed ID: 16770759; Supplementary Table 4, Ramus et al. 2015. PubMed ID: 26315354; Zuntini et al. 2021. PubMed ID: 34072463), but has also been identified in cohorts of unaffected individuals (Supplementary Table 4, Ramus et al. 2015. PubMed ID: 26315354; Table S1, Bodian et al. 2014. PubMed ID: 24728327). This variant is reported in 0.076% of alleles in individuals of European (Non-Finnish) descent in gnomAD and has conflicting interpretations of likely benign and uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/127014/). 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
(-)
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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
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001553924.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The NBN p.Val210Phe variant was identified in 4 of 3654 proband chromosomes (frequency: 0.001) from individuals or families with melanoma, breast cancer, Non-Hodgkin lymphomas, ALL … (more)
The NBN p.Val210Phe variant was identified in 4 of 3654 proband chromosomes (frequency: 0.001) from individuals or families with melanoma, breast cancer, Non-Hodgkin lymphomas, ALL (Meyer_2007, Damiola_2014, Cerosaletti_2002, Varon_2001). The variant was also identified in the following databases: dbSNP (ID: rs61754796) as “With Uncertain significance allele”, ClinVar (classified as uncertain significance by GeneDx, Invitae, GSLUC; classified as likely benign by Ambry Genetics), Clinvitae (classified as uncertain significance by ClinVar, Invitae; classified as likely benign by ClinVar), and the Zhejiang Colon Cancer Database. The variant was not identified in Cosmic or LOVD 3.0, databases. The variant was identified in 116 of 276770 chromosomes at a frequency of 0.0004 in the following populations: African in 3 of 24004 chromosomes (freq. 0.000125), “other” in 3 of 6450 chromosomes (freq. 0.00046), Latino in 4 of 34354 chromosomes (freq. 0.000116), European in 97 of 126420 chromosomes (freq. 0.00076), Finnish in 5 of 25764 chromosomes (freq. 0.0002), and South Asian in 4 of 30782 chromosomes (freq. 0.00013), increasing the likelihood this could be a low frequency benign variant in certain populations (Genome Aggregation Consortium Feb 27, 2017). The p.Val210 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 Nibrin 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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Likely benign
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001808588.1 First in ClinVar: Aug 25, 2021 Last updated: Aug 25, 2021 |
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Likely benign
(-)
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no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001973234.1 First in ClinVar: Oct 08, 2021 Last updated: Oct 08, 2021 |
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not provided
(-)
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no classification provided
Method: not provided
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not provided
Affected status: not provided
Allele origin:
unknown
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Harris Lab, University of Minnesota
Accession: SCV000148775.1
First in ClinVar: Apr 24, 2014 Last updated: Apr 24, 2014 |
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not provided
(Sep 19, 2013)
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no classification provided
Method: reference population
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AllHighlyPenetrant
Affected status: unknown
Allele origin:
germline
|
ITMI
Accession: SCV000085820.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014 |
Observation 1:
Ethnicity/Population group: Whole_cohort
Observation 2:
Ethnicity/Population group: African
Observation 3:
Ethnicity/Population group: African_European
Observation 4:
Ethnicity/Population group: Central_Asian
Observation 5:
Ethnicity/Population group: East_Asian
Observation 6:
Ethnicity/Population group: European
Observation 7:
Ethnicity/Population group: Hispanic
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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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Detection of germline variants in Brazilian breast cancer patients using multigene panel testing. | Guindalini RSC | Scientific reports | 2022 | PMID: 35264596 |
Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next? | Zuntini R | International journal of molecular sciences | 2021 | PMID: 34072463 |
A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex. | Rahman S | Cells | 2020 | PMID: 32668560 |
Genomics of lethal prostate cancer at diagnosis and castration resistance. | Mateo J | The Journal of clinical investigation | 2020 | PMID: 31874108 |
Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico. | Dutil J | Scientific reports | 2019 | PMID: 31780696 |
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings. | Bonache S | Journal of cancer research and clinical oncology | 2018 | PMID: 30306255 |
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. | Hauke J | Cancer medicine | 2018 | PMID: 29522266 |
Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds. | Dominguez-Valentin M | Hereditary cancer in clinical practice | 2018 | PMID: 29371908 |
Multigene testing of moderate-risk genes: be mindful of the missense. | Young EL | Journal of medical genetics | 2016 | PMID: 26787654 |
Mutation analysis of PALB2 gene in French breast cancer families. | Damiola F | Breast cancer research and treatment | 2015 | PMID: 26564480 |
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. | Ramus SJ | Journal of the National Cancer Institute | 2015 | PMID: 26315354 |
Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study. | Damiola F | Breast cancer research : BCR | 2014 | PMID: 24894818 |
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. | Bodian DL | PloS one | 2014 | PMID: 24728327 |
NBN Gene Polymorphisms and Cancer Susceptibility: A Systemic Review. | Berardinelli F | Current genomics | 2013 | PMID: 24396275 |
Germline mutations 657del5 and 643C>T (R215W) in NBN are not likely to be associated with increased risk of breast cancer in Czech women. | Mateju M | Breast cancer research and treatment | 2012 | PMID: 22491912 |
Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID. | Offer SM | PloS one | 2010 | PMID: 20805886 |
A supramodular FHA/BRCT-repeat architecture mediates Nbs1 adaptor function in response to DNA damage. | Lloyd J | Cell | 2009 | PMID: 19804756 |
NBS1 Heterozygosity and Cancer Risk. | di Masi A | Current genomics | 2008 | PMID: 19452044 |
The importance of making ends meet: mutations in genes and altered expression of proteins of the MRN complex and cancer. | Dzikiewicz-Krawczyk A | Mutation research | 2008 | PMID: 18606567 |
Molecular genetic analysis of NBS1 in German melanoma patients. | Meyer P | Melanoma research | 2007 | PMID: 17496786 |
Association of the heterozygous germline I171V mutation of the NBS1 gene with childhood acute lymphoblastic leukemia. | Mosor M | Leukemia | 2006 | PMID: 16810201 |
Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland. | Steffen J | International journal of cancer | 2006 | PMID: 16770759 |
Mutations and molecular variants of the NBS1 gene in non-Hodgkin lymphoma. | Cerosaletti KM | Genes, chromosomes & cancer | 2002 | PMID: 12353271 |
Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). | Varon R | Cancer research | 2001 | PMID: 11325820 |
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Text-mined citations for rs61754796 ...
HelpRecord last updated Mar 17, 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.