ClinVar Genomic variation as it relates to human health
NC_000014.9:g.[94380925T>A;94382636T>C]
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
NC_000014.9:g.[94380925T>A;94382636T>C]
- Other names
- -
- Functional consequence
- -
- Links
- ClinGen: CA645511342
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 | ||
---|---|---|---|---|---|---|
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. |
|||
SERPINA1 | - | - |
GRCh38 GRCh38 GRCh37 |
467 | 502 |
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. |
---|---|---|---|---|
Pathogenic (1) |
criteria provided, single submitter
|
Jul 12, 2016 | RCV000508742.11 |
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. |
|
---|---|---|---|---|---|
Pathogenic
(Jul 12, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Alpha-1 Antitrypsin Deficiency
Affected status: yes
Allele origin:
germline
|
HerediLab, Inc.
Accession: SCV000605935.2
First in ClinVar: Oct 01, 2017 Last updated: Dec 11, 2022 |
|
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 |
---|---|---|---|---|
Alpha-1 Antitrypsin Deficiency. | Adam MP | - | 2023 | PMID: 20301692 |
Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis. | Wilk MA | Cold Spring Harbor molecular case studies | 2020 | PMID: 32014855 |
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging. | Hou YC | Proceedings of the National Academy of Sciences of the United States of America | 2020 | PMID: 31980526 |
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. | eMERGE Consortium. Electronic address: agibbs@bcm.edu | American journal of human genetics | 2019 | PMID: 31447099 |
Modifier genes in cystic fibrosis-related liver disease. | Debray D | Current opinion in gastroenterology | 2019 | PMID: 30585791 |
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency. | Giacopuzzi E | Human mutation | 2018 | PMID: 29882371 |
Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency. | Matamala N | American journal of respiratory cell and molecular biology | 2018 | PMID: 29232161 |
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. | Posey JE | The New England journal of medicine | 2017 | PMID: 27959697 |
Analysis of protein-coding genetic variation in 60,706 humans. | Lek M | Nature | 2016 | PMID: 27535533 |
α1-Antitrypsin deficiency. | Greene CM | Nature reviews. Disease primers | 2016 | PMID: 27465791 |
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. | Maxwell KN | American journal of human genetics | 2016 | PMID: 27153395 |
A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height. | North TL | Journal of medical genetics | 2016 | PMID: 26831755 |
Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland. | Häggblom J | European clinical respiratory journal | 2015 | PMID: 26672964 |
PiSZ alpha-1 antitrypsin deficiency (AATD): pulmonary phenotype and prognosis relative to PiZZ AATD and PiMM COPD. | Green CE | Thorax | 2015 | PMID: 26141072 |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | Amendola LM | Genome research | 2015 | PMID: 25637381 |
Prevalence of alpha-1 antitrypsin high-risk variants in Mexican mestizo population and their association with lung function values. | Pérez-Rubio G | Archivos de bronconeumologia | 2015 | PMID: 25454901 |
Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes. | Ramos MD | Clinical genetics | 2014 | PMID: 23837941 |
Actionable, pathogenic incidental findings in 1,000 participants' exomes. | Dorschner MO | American journal of human genetics | 2013 | PMID: 24055113 |
α1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population. | Bornhorst JA | Chest | 2013 | PMID: 23632999 |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. | Lazarin GA | Genetics in medicine : official journal of the American College of Medical Genetics | 2013 | PMID: 22975760 |
Prevalence of α1-antitrypsin deficiency alleles PI*S and PI*Z worldwide and effective screening for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ: a comprehensive review. | de Serres FJ | Therapeutic advances in respiratory disease | 2012 | PMID: 22933512 |
Serum levels and genotype distribution of α1-antitrypsin in the general population. | Ferrarotti I | Thorax | 2012 | PMID: 22426792 |
A map of human genome variation from population-scale sequencing. | 1000 Genomes Project Consortium | Nature | 2010 | PMID: 20981092 |
Real time PCR detection of the PI*Z and PI*S mutations associated with alpha-1 antitrypsin deficiency. | Bartels CL | American journal of translational research | 2009 | PMID: 19956452 |
Plasminogen alleles influence susceptibility to invasive aspergillosis. | Zaas AK | PLoS genetics | 2008 | PMID: 18566672 |
Hereditary alpha-1-antitrypsin deficiency and its clinical consequences. | Fregonese L | Orphanet journal of rare diseases | 2008 | PMID: 18565211 |
Alpha-1 antitrypsin deficiency: pathogenesis, clinical presentation, diagnosis, and treatment. | Köhnlein T | The American journal of medicine | 2008 | PMID: 18187064 |
Genetic polymorphisms and susceptibility to lung disease. | Lee PL | Journal of negative results in biomedicine | 2006 | PMID: 16608528 |
The protease inhibitor PI*S allele and COPD: a meta-analysis. | Dahl M | The European respiratory journal | 2005 | PMID: 15994391 |
Alpha1-antitrypsin deficiency. | Stoller JK | Lancet (London, England) | 2005 | PMID: 15978931 |
Outcome of PiSS and PiSZ alpha-1-antitrypsin deficiency presenting with liver involvement. | Hadzic N | European journal of pediatrics | 2005 | PMID: 15711957 |
Heteropolymerization of S, I, and Z alpha1-antitrypsin and liver cirrhosis. | Mahadeva R | The Journal of clinical investigation | 1999 | PMID: 10194472 |
Clinical features of individuals with PI*SZ phenotype of alpha 1-antitrypsin deficiency. alpha 1-Antitrypsin Deficiency Registry Study Group. | Turino GM | American journal of respiratory and critical care medicine | 1996 | PMID: 8970361 |
Use of a highly purified alpha 1-antitrypsin standard to establish ranges for the common normal and deficient alpha 1-antitrypsin phenotypes. | Brantly ML | Chest | 1991 | PMID: 1889260 |
Serum alpha 1-antitrypsin deficiency associated with the common S-type (Glu264----Val) mutation results from intracellular degradation of alpha 1-antitrypsin prior to secretion. | Curiel DT | The Journal of biological chemistry | 1989 | PMID: 2567291 |
Evaluation of the S-type of alpha-1-antitrypsin as an in vivo and in vitro inhibitor of neutrophil elastase. | Ogushi F | The American review of respiratory disease | 1988 | PMID: 3257660 |
Complete sequence of the cDNA for human alpha 1-antitrypsin and the gene for the S variant. | Long GL | Biochemistry | 1984 | PMID: 6093867 |
Alpha 1 antitrypsin deficiency: clinical and physiological features in heterozygotes of Pi type SZ. A survey by the British Thoracic Association. | Hutchison DC | British journal of diseases of the chest | 1983 | PMID: 6602622 |
Molecular abnormality of PI S variant of human alpha1-antitrypsin. | Yoshida A | American journal of human genetics | 1977 | PMID: 301355 |
Alpha-1-antitrypsin: molecular abnormality of S variant. | - | British medical journal | 1976 | PMID: 1082356 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SERPINA1 | - | - | - | - |
click to load more click to collapse |
Text-mined citations for this variant ...
HelpRecord last updated Apr 20, 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.