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NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr) AND Alpha-1-antitrypsin deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 8, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000512619.3

Allele description [Variation Report for NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr)]

NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr)

Gene:
SERPINA1:serpin family A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.13
Genomic location:
Preferred name:
NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr)
Other names:
A336T; SERPINA1, ALA336THR ON M1A
HGVS:
  • NC_000014.9:g.94378628C>T
  • NG_008290.1:g.17065G>A
  • NM_000295.5:c.1078G>AMANE SELECT
  • NM_001002235.3:c.1078G>A
  • NM_001002236.3:c.1078G>A
  • NM_001127700.2:c.1078G>A
  • NM_001127701.2:c.1078G>A
  • NM_001127702.2:c.1078G>A
  • NM_001127703.2:c.1078G>A
  • NM_001127704.2:c.1078G>A
  • NM_001127705.2:c.1078G>A
  • NM_001127706.2:c.1078G>A
  • NM_001127707.2:c.1078G>A
  • NP_000286.3:p.Ala360Thr
  • NP_001002235.1:p.Ala360Thr
  • NP_001002236.1:p.Ala360Thr
  • NP_001121172.1:p.Ala360Thr
  • NP_001121173.1:p.Ala360Thr
  • NP_001121174.1:p.Ala360Thr
  • NP_001121175.1:p.Ala360Thr
  • NP_001121176.1:p.Ala360Thr
  • NP_001121177.1:p.Ala360Thr
  • NP_001121178.1:p.Ala360Thr
  • NP_001121179.1:p.Ala360Thr
  • LRG_575t1:c.1078G>A
  • LRG_575:g.17065G>A
  • LRG_575p1:p.Ala360Thr
  • NC_000014.8:g.94844965C>T
  • NM_000295.4:c.1078G>A
  • P01009:p.Ala360Thr
Protein change:
A360T; ALA336THR
Links:
UniProtKB: P01009#VAR_007002; OMIM: 107400.0029; dbSNP: rs1802959
NCBI 1000 Genomes Browser:
rs1802959
Molecular consequence:
  • NM_000295.5:c.1078G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002235.3:c.1078G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002236.3:c.1078G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127700.2:c.1078G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127701.2:c.1078G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127702.2:c.1078G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127703.2:c.1078G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127704.2:c.1078G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127705.2:c.1078G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127706.2:c.1078G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127707.2:c.1078G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on catalytic protein function [Variation Ontology: 0008]

Condition(s)

Name:
Alpha-1-antitrypsin deficiency (A1ATD)
Synonyms:
AAT deficiency; A1AT deficiency; Alpha1-Antitrypsin Deficiency
Identifiers:
MONDO: MONDO:0013282; MedGen: C0221757; Orphanet: 60; OMIM: 613490

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000608295Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital
no assertion criteria provided
Pathogenic
(Dec 8, 2014) 		germlinecuration

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Alpha 1-antitrypsin Wbethesda: molecular basis of an unusual alpha 1-antitrypsin deficiency variant.

Holmes MD, Brantly ML, Fells GA, Crystal RG.

Biochem Biophys Res Commun. 1990 Aug 16;170(3):1013-20.

PubMed [citation]
PMID:
2390072

Details of each submission

From Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital, SCV000608295.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Reduced enzyme activity

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024