ClinVar Genomic variation as it relates to human health
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala)
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala)
Variation ID: 36065 Accession: VCV000036065.41
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 15q21.1 15: 48487333 (GRCh38) [ NCBI UCSC ] 15: 48779530 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 4, 2013 May 1, 2024 Feb 5, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_000138.5:c.3442C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000129.3:p.Pro1148Ala missense NC_000015.10:g.48487333G>C NC_000015.9:g.48779530G>C NG_008805.2:g.163456C>G LRG_778:g.163456C>G LRG_778t1:c.3442C>G LRG_778p1:p.Pro1148Ala - Protein change
- P1148A
- Other names
- p.P1148A:CCC>GCC
- Canonical SPDI
- NC_000015.10:48487332:G:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.05970 (C)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.02880
The Genome Aggregation Database (gnomAD), exomes 0.03157
1000 Genomes Project 30x 0.05621
1000 Genomes Project 0.05970
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00362
The Genome Aggregation Database (gnomAD) 0.01315
Trans-Omics for Precision Medicine (TOPMed) 0.02138
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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FBN1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
7458 | 7789 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Benign (4) |
criteria provided, multiple submitters, no conflicts
|
Feb 5, 2024 | RCV000029726.17 | |
Benign (1) |
no assertion criteria provided
|
May 1, 1997 | RCV000030812.11 | |
Benign (6) |
criteria provided, multiple submitters, no conflicts
|
Aug 13, 2021 | RCV000035172.29 | |
Benign (1) |
criteria provided, single submitter
|
Feb 1, 2024 | RCV000461828.15 | |
Benign (4) |
criteria provided, multiple submitters, no conflicts
|
Oct 3, 2018 | RCV000770675.17 | |
Benign (1) |
criteria provided, single submitter
|
Mar 6, 2018 | RCV001119710.12 | |
Benign (1) |
criteria provided, single submitter
|
Mar 6, 2018 | RCV001119711.12 | |
Benign (1) |
criteria provided, single submitter
|
Mar 6, 2018 | RCV001119713.12 | |
Benign (1) |
criteria provided, single submitter
|
Mar 6, 2018 | RCV001118162.12 | |
Benign (1) |
criteria provided, single submitter
|
Nov 27, 2023 | RCV001811206.16 | |
Benign (1) |
criteria provided, single submitter
|
Mar 6, 2018 | RCV001119712.12 | |
Benign (1) |
criteria provided, single submitter
|
Jul 14, 2022 | RCV002276585.10 | |
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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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Benign
(Mar 11, 2015)
|
criteria provided, single submitter
Method: research
|
Marfan Syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
CSER _CC_NCGL, University of Washington
Study: CSER - NEXT Medicine variant annotation
Accession: SCV000212200.1 First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013 |
Indication for testing: adults with personal and/or family history of colorectal cancer and/or polyps
|
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Benign
(-)
|
criteria provided, single submitter
Method: clinical testing
|
NOT SPECIFIED
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000302550.1
First in ClinVar: Oct 02, 2016 Last updated: Oct 02, 2016 |
|
|
Benign
(Mar 08, 2013)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000169888.11
First in ClinVar: Jun 23, 2014 Last updated: Oct 02, 2016 |
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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Benign
(Mar 06, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Weill-Marchesani syndrome
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001276426.1
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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
|
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Benign
(Mar 06, 2018)
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criteria provided, single submitter
Method: clinical testing
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Geleophysic dysplasia
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001278142.1
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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
|
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Benign
(Mar 06, 2018)
|
criteria provided, single submitter
Method: clinical testing
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Marfan syndrome
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000392442.3
First in ClinVar: Dec 06, 2016 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
|
|
Benign
(Mar 06, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Familial thoracic aortic aneurysm and aortic dissection
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001278140.1
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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
|
|
Benign
(Mar 06, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Stiff skin syndrome
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001278141.1
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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
|
|
Benign
(Mar 06, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Ectopia lentis 1, isolated, autosomal dominant
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001278143.1
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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
|
|
Benign
(Mar 06, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Acromicric dysplasia
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001278144.1
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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
|
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Benign
(Oct 03, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Familial thoracic aortic aneurysm and aortic dissection
Affected status: unknown
Allele origin:
germline
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV000902136.2
First in ClinVar: May 06, 2019 Last updated: May 31, 2020 |
|
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Benign
(Jul 14, 2022)
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criteria provided, single submitter
Method: clinical testing
|
Connective tissue disorder
Affected status: unknown
Allele origin:
germline
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
Accession: SCV002566525.1
First in ClinVar: Aug 29, 2022 Last updated: Aug 29, 2022 |
|
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Benign
(Nov 27, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000603605.8
First in ClinVar: Oct 02, 2016 Last updated: Feb 20, 2024 |
|
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Benign
(Feb 05, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Marfan syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004814807.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
|
Number of individuals with the variant: 2666
|
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Benign
(Jun 26, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000228594.5
First in ClinVar: Jun 28, 2015 Last updated: Oct 02, 2016 |
Number of individuals with the variant: 3
Sex: mixed
|
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Benign
(Mar 19, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Familial thoracic aortic aneurysm and aortic dissection
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000902605.1
First in ClinVar: May 20, 2019 Last updated: May 20, 2019 |
|
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Benign
(Feb 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Explanation for multiple conditions: Uncertain.
The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases.
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000557058.7
First in ClinVar: Apr 17, 2017 Last updated: Feb 28, 2024 |
|
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Benign
(Aug 13, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000058814.6
First in ClinVar: May 03, 2013 Last updated: Apr 20, 2024 |
Comment:
The p.Pro1148Ala variant in FBN1 is classified as benign because it has been identified in 24% (4787/19944) of East Asian chromosomes, including 593 homozygotes, by … (more)
The p.Pro1148Ala variant in FBN1 is classified as benign because it has been identified in 24% (4787/19944) of East Asian chromosomes, including 593 homozygotes, by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1. (less)
|
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Benign
(Feb 19, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Familial thoracic aortic aneurysm and aortic dissection
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000317325.7
First in ClinVar: Oct 02, 2016 Last updated: May 01, 2024 |
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more)
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
|
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Benign
(May 01, 1997)
|
no assertion criteria provided
Method: literature only
|
FNB1 POLYMORPHISM
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000053483.2
First in ClinVar: Apr 04, 2013 Last updated: Jan 06, 2017 |
Comment on evidence:
Dietz et al. (1995) reported an 11-year-old girl with typical features of Marfan syndrome who also had hypotonia, scaphocephaly with craniosynostosis, ocular proptosis, low-set anomalous … (more)
Dietz et al. (1995) reported an 11-year-old girl with typical features of Marfan syndrome who also had hypotonia, scaphocephaly with craniosynostosis, ocular proptosis, low-set anomalous ears, micrognathia, hyperelastic skin, umbilical hernia, talipes equinovarus, and mental retardation. In this patient, Dietz et al. (1995) identified a C-to-G transversion at nucleotide 3442, substituting alanine for proline at codon 1148 (P1148A) within an EGF-like domain. This mutation was not present in the mother; the father's DNA was not available for study. The same mutation had been found in apparently unaffected members of families with Marfan syndrome or an isolated aortic aneurysm and had been found with much higher frequency in families affected by Marfan syndrome than in controls (Tynan et al., 1993). Indeed, Dietz et al. (1995) had identified P1148A in approximately 5% of the affected families, but in none of over 300 chromosomes from a control population. This suggested that P1148A defines a predisposing allele that is subject to extreme modification by epistatic, stochastic, and/or environmental modifiers. Sood et al. (1996) reported further on these 2 patients. Schrijver et al. (1997) screened 416 unrelated control individuals for the P1148A substitution and found an allele frequency of 3.8%. They observed a similar allele frequency (3%) after screening 133 patients with connective tissue disorders, including 55 with Marfan syndrome and 54 with aortic aneurysms. The authors concluded that the P1148A substitution is a polymorphism of no clinical significance. Watanabe et al. (1997) came to similar conclusions. In 3 unrelated Japanese patients with Shprintzen-Goldberg syndrome, they found that 1 was heterozygous for P1148A, 1 was homozygous for this substitution, and the third was homozygous for the wildtype allele. Among 3 healthy relatives of the SGS patient who was homozygous for P1148A, 2 (the mother and maternal grandmother) were found to be homozygous and 1 (the brother) to be heterozygous. In 161 native Japanese persons without SGS or Marfan syndrome, they found that 11 were P1148A homozygotes and 49 were heterozygotes. The estimated allele frequency of P1148A was calculated to be 0.22 among native Japanese. Wang et al. (1997) identified 5 individuals with P1148A in a mixed patient population, but none in 120 Caucasian or 50 African American controls. They found that 3 of the 5 individuals were Japanese. They also found that 8 of 25 native Chinese individuals were heterozygous and none homozygous for P1148A. Thus, Watanabe et al. (1997) concluded that P1148A is a polymorphic variant with increased frequency in Asian populations. (less)
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Benign
(Mar 12, 2013)
|
no assertion criteria provided
Method: clinical testing
|
Marfan's syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000052379.2
First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013 |
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Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001798210.1 First in ClinVar: Aug 21, 2021 Last updated: Aug 21, 2021 |
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Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001807589.1 First in ClinVar: Aug 25, 2021 Last updated: Aug 25, 2021 |
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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 |
---|---|---|---|---|
Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome. | Comeglio P | Human mutation | 2001 | PMID: 11524736 |
NMR analysis of cbEGF domains gives new insights into the structural consequences of a P1148A substitution in fibrillin-1. | Whiteman P | Protein engineering | 1998 | PMID: 9876915 |
P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome. | Watanabe Y | Human mutation | 1997 | PMID: 9338588 |
The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent? | Schrijver I | Human genetics | 1997 | PMID: 9150726 |
P1148A in fibrillin-1 is not a mutation anymore. | Wang M | Nature genetics | 1997 | PMID: 8988160 |
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. | Sood S | Nature genetics | 1996 | PMID: 8563763 |
The skipping of constitutive exons in vivo induced by nonsense mutations. | Dietz HC | Science (New York, N.Y.) | 1993 | PMID: 8430317 |
Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. | Tynan K | Human molecular genetics | 1993 | PMID: 8281141 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=FBN1 | - | - | - | - |
Text-mined citations for rs140598 ...
HelpRecord last updated May 12, 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.