NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)

NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)

Variant type:
single nucleotide variant
Cytogenetic location:
14q32.1
Genomic location:
  • Chr14:94378610 (on Assembly GRCh38)
  • Chr14:94844947 (on Assembly GRCh37)
Other names:
  • PI, GLU342LYS ON M1A
  • Z allele
  • PI Z(AUGSBURG)
  • PI, GLU342LYS ON M2
  • PI Z(TUN)
Protein change:
E342K, E366K
HGVS:
  • NG_008290.1:g.17083G>A
  • NM_000295.4:c.1096G>A
  • NM_001127701.1:c.1096G>A
  • NC_000014.9:g.94378610C>T (GRCh38)
  • NP_000286.3:p.Glu366Lys
  • NP_001121173.1:p.Glu366Lys
  • NC_000014.8:g.94844947C>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs28929474
Molecular consequence:
NM_001127701.1:c.1096G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.01230 (T)
  • GMAF 0.00400 (T)

Clinical significance

NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)

Clinical significance:
Pathogenic, other
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Number of submission(s):
6
Condition(s)
See supporting ClinVar records

1 Affected gene

Browser views

Recent activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(Apr 10, 2014)
criteria provided, single submitter
(LMM Criteria)
clinical testing
  • Alpha-1-antitrypsin deficiency (Autosomal recessive inheritance)[MedGen | Orphanet | OMIM]
germlinePubMed (4)
[See all records that cite these PMIDs]
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

(Jan 26, 2015)

SCV000200303
Pathogenic
(Dec 15, 2014)
criteria provided, single submitter
(EGL Classification Definitions)
clinical testinggermline

Citation link

Emory Genetics Laboratory

(Jun 9, 2015)

SCV000230899
other
(Apr 4, 2013)
no assertion criteria providedliterature only
  • PI Z
germlinePubMed (9)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000039864
other
(Apr 4, 2013)
no assertion criteria providedliterature only
  • PI Z(AUGSBURG)
germlinePubMed (3)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000039892
other
(Apr 4, 2013)
no assertion criteria providedliterature only
  • PI Z(TUN)
germlinePubMed (3)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000039893
Pathogenic
(Jun 1, 2014)
no assertion criteria providedresearch
  • Alpha-1-antitrypsin deficiency (Autosomal recessive inheritance)[MedGen | Orphanet | OMIM]
germlineCSER_CC_NCGL; University of Washington Medical Center - ESP 6500 variant annotation

(Aug 28, 2014)

SCV000190621
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submitters712germlinenot providednot provided
CSER_CC_NCGL; University of Washington Medical Centernot providednot providedgermlinenot providednot providednot providednot provided
Emory Genetics Laboratorynot provided5germlinenot providednot providednot provided
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine77germlinenot providednot providedPubMednot provided
OMIMnot providednot providedgermlinenot providednot providedPubMednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
CSER_CC_NCGL; University of Washington Medical Centergermlinenot providedAlpha-1-antitrypsin deficiency (unknown)not providednot providednot providednot provided
Emory Genetics Laboratorygermline5Alpha-1-antitrypsin deficiency (unknown)not providednot providednot provided
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinegermline7Alpha-1-antitrypsin deficiency (not provided)not providednot providedPubMedThe Glu366Lys variant in SERPINA1 (also known as p.Glu342Lys or PI*Z) is the most common alpha-1 antitrypsin deficiency (AATD) allele. It has been ide…Full description
OMIMgermlinenot providedPI Z (not provided)not providednot providedPubMedApproximately 3 to 5% of patients with cystic fibrosis (CF; 219700) develop severe liver disease defined as cirrhosis with portal hypertension. Bartle…Full description
OMIMgermlinenot providedPI Z(AUGSBURG) (not provided)not providednot providedPubMedUsing isoelectric focusing with a narrow pH gradient, Weidinger et al. (1985) recognized a rare deficient PI variant, which they called PI Z(Augsburg)…Full description
OMIMgermlinenot providedPI Z(TUN) (not provided)not providednot providedPubMedUsing isoelectric focusing with a narrow pH gradient, Weidinger et al. (1985) recognized a rare deficient PI variant, which they called PI Z(Augsburg)…Full description

Last Updated: Jun 28, 2015