VCV000219354.1 - ClinVar

NM_001127701.1(SERPINA1):c.[187C>T;739C>T]

Germline

Classification

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.

(1)

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.

Pathogenic

criteria provided, single submitter

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

This haplotype includes the following variants

NM_001127701.1(SERPINA1):c.[187C>T;739C>T]

Other names: -
Functional consequence: -
Links: ClinGen: CA353866

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
Gene	OMIM	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	483	518

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.
Alpha-1-antitrypsin deficiency	Pathogenic (1)	criteria provided, single submitter	Jul 23, 2015	RCV000205893.3

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 23, 2015)	criteria provided, single submitter (HerediLab_Assertion_Criteria) Method: clinical testing	Alpha-1-antitrypsin deficiency Affected status: yes Allele origin: germline	HerediLab, Inc. Accession: SCV000259189.1 First in ClinVar: Jan 31, 2016 Last updated: Jan 31, 2016

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

Title	Author	Journal	Year	Link
Alpha-1 Antitrypsin Deficiency.	Adam MP	-	2023	PMID: 20301692
Granularity of SERPINA1 alleles by DNA sequencing in CanCOLD.	Gupta N	The European respiratory journal	2020	PMID: 32482783
SERPINA1 gene polymorphisms in a population-based ALSPAC cohort.	DeLuca DS	Pediatric pulmonology	2019	PMID: 31298815
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency.	Giacopuzzi E	Human mutation	2018	PMID: 29882371
Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal.	Silva D	Respiratory medicine	2016	PMID: 27296815
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
Frequency of Rare Alpha-1 Antitrypsin Variants in Polish Patients with Chronic Respiratory Disorders.	Duk K	Advances in experimental medicine and biology	2016	PMID: 26987331
Frequency of Rare Alpha-1 Antitrypsin Variants in Polish Patients with Chronic Respiratory Disorders.	Duk K	Advances in experimental medicine and biology	2016	PMID: 26987331
Aberrant disulphide bonding contributes to the ER retention of alpha1-antitrypsin deficiency variants.	Ronzoni R	Human molecular genetics	2016	PMID: 26647313
Aberrant disulphide bonding contributes to the ER retention of alpha1-antitrypsin deficiency variants.	Ronzoni R	Human molecular genetics	2016	PMID: 26647313
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.	Amendola LM	Genome research	2015	PMID: 25637381
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.	Xiong HY	Science (New York, N.Y.)	2015	PMID: 25525159
The significance of the F variant of alpha-1-antitrypsin and unique case report of a PiFF homozygote.	Sinden NJ	BMC pulmonary medicine	2014	PMID: 25098359
Challenging identification of a novel PiISF and the rare PiMmaltonZ α1-antitrypsin deficiency variants in two patients.	Suh-Lailam BB	American journal of clinical pathology	2014	PMID: 24713750
Challenging identification of a novel PiISF and the rare PiMmaltonZ α1-antitrypsin deficiency variants in two patients.	Suh-Lailam BB	American journal of clinical pathology	2014	PMID: 24713750
Personalized genomic disease risk of volunteers.	Gonzalez-Garay ML	Proceedings of the National Academy of Sciences of the United States of America	2013	PMID: 24082139
Reference and interpretive ranges for α(1)-antitrypsin quantitation by phenotype in adult and pediatric populations.	Donato LJ	American journal of clinical pathology	2012	PMID: 22912357
A challenging diagnosis of alpha-1-antitrypsin deficiency: identification of a patient with a novel F/Null phenotype.	Ringenbach MR	Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology	2011	PMID: 22078084
The prevalence of alpha-1 antitrypsin deficiency in Ireland.	Carroll TP	Respiratory research	2011	PMID: 21752289
SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations.	Zorzetto M	Clinical chemistry	2008	PMID: 18515255
Laboratory diagnosis of alpha1-antitrypsin deficiency.	Ferrarotti I	Translational research : the journal of laboratory and clinical medicine	2007	PMID: 17964515
Retarded protein folding of deficient human alpha 1-antitrypsin D256V and L41P variants.	Jung CH	Protein science : a publication of the Protein Society	2004	PMID: 14767073
Heteropolymerization of S, I, and Z alpha1-antitrypsin and liver cirrhosis.	Mahadeva R	The Journal of clinical investigation	1999	PMID: 10194472
Kinetic characterisation of alpha-1-antitrypsin F as an inhibitor of human neutrophil elastase.	Cook L	Pathology	1996	PMID: 8912354
Molecular characterization of the P and I variants of alpha 1-antitrypsin.	Seri M	International journal of clinical & laboratory research	1992	PMID: 1504305
Characterization of the molecular basis of the alpha 1-antitrypsin F allele.	Okayama H	American journal of human genetics	1991	PMID: 2035534
The alpha 1-antitrypsin gene and its deficiency states.	Crystal RG	Trends in genetics : TIG	1989	PMID: 2696185
The alpha 1-antitrypsin gene and its deficiency states.	Crystal RG	Trends in genetics : TIG	1989	PMID: 2696185
Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys).	Graham A	Human genetics	1989	PMID: 2606478
Study of familial alpha-1-proteinase inhibitor deficiency including a rare proteinase inhibitor phenotype (IZ). I. Alpha-1-phenotyping and clinical investigations.	Baur X	Respiration; international review of thoracic diseases	1987	PMID: 3496639
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SERPINA1	-	-	-	-
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SERPINA1	-	-	-	-
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Text-mined citations for this variant ...

Record last updated Oct 20, 2024

ClinVar Genomic variation as it relates to human health

NM_001127701.1(SERPINA1):c.[187C>T;739C>T]

Variant Details

NM_001127701.1(SERPINA1):c.[187C>T;739C>T]

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...