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NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr) AND PI W(BETHESDA)

Germline classification:
other (1 submission)
Last evaluated:
Jul 15, 2016
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:
RCV000019596.4

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:
PI W(BETHESDA)
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039894OMIM
no assertion criteria provided
other
(Jul 15, 2016) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Alpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapy.

Crystal RG.

J Clin Invest. 1990 May;85(5):1343-52. Review. No abstract available.

PubMed [citation]
PMID:
2185272
PMCID:
PMC296579

Molecular analysis of the heterogeneity among the P-family of alpha-1-antitrypsin alleles.

Holmes MD, Brantly ML, Crystal RG.

Am Rev Respir Dis. 1990 Nov;142(5):1185-92.

PubMed [citation]
PMID:
2240842

Details of each submission

From OMIM, SCV000039894.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

This variant allele, which is associated with increased risk of emphysema and liver disease, has a mutation in exon 5 where codon 336 is changed from GCT to ACT, resulting in substitution of threonine for alanine (Crystal, 1990). Holmes et al. (1990) reported that the W(Bethesda) form differs from the normal M1(ala-213) allele by a change in codon 336 from GCT to ACT. Although W(Bethesda) mRNA was translated normally in vitro, transfection of the W(Bethesda) cDNA into COS-I cells was associated with AAT secretion only 50% that of cells transfected with normal cDNA. There was no intracellular accumulation as observed with the Z allele, but reduced intracellular AAT suggested degradation of newly synthesized W(Bethesda) molecules.

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

Last Updated: Jan 13, 2025