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NM_000295.5(SERPINA1):c.1177C>A (p.Pro393Thr) AND Alpha-1-antitrypsin deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 2, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000206411.1

Allele description [Variation Report for NM_000295.5(SERPINA1):c.1177C>A (p.Pro393Thr)]

NM_000295.5(SERPINA1):c.1177C>A (p.Pro393Thr)

Gene:
SERPINA1:serpin family A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.13
Genomic location:
Preferred name:
NM_000295.5(SERPINA1):c.1177C>A (p.Pro393Thr)
HGVS:
  • NC_000014.9:g.94378529G>T
  • NG_008290.1:g.17164C>A
  • NM_000295.5:c.1177C>AMANE SELECT
  • NM_001002235.3:c.1177C>A
  • NM_001002236.3:c.1177C>A
  • NM_001127700.2:c.1177C>A
  • NM_001127701.2:c.1177C>A
  • NM_001127702.2:c.1177C>A
  • NM_001127703.2:c.1177C>A
  • NM_001127704.2:c.1177C>A
  • NM_001127705.2:c.1177C>A
  • NM_001127706.2:c.1177C>A
  • NM_001127707.2:c.1177C>A
  • NP_000286.3:p.Pro393Thr
  • NP_001002235.1:p.Pro393Thr
  • NP_001002236.1:p.Pro393Thr
  • NP_001121172.1:p.Pro393Thr
  • NP_001121173.1:p.Pro393Thr
  • NP_001121174.1:p.Pro393Thr
  • NP_001121175.1:p.Pro393Thr
  • NP_001121176.1:p.Pro393Thr
  • NP_001121177.1:p.Pro393Thr
  • NP_001121178.1:p.Pro393Thr
  • NP_001121179.1:p.Pro393Thr
  • LRG_575t1:c.1177C>A
  • LRG_575:g.17164C>A
  • LRG_575p1:p.Pro393Thr
  • NC_000014.8:g.94844866G>T
Protein change:
P393T
Links:
dbSNP: rs61761869
NCBI 1000 Genomes Browser:
rs61761869
Molecular consequence:
  • NM_000295.5:c.1177C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002235.3:c.1177C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002236.3:c.1177C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127700.2:c.1177C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127701.2:c.1177C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127702.2:c.1177C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127703.2:c.1177C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127704.2:c.1177C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127705.2:c.1177C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127706.2:c.1177C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127707.2:c.1177C>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000259195HerediLab, Inc.
criteria provided, single submitter

(HerediLab_Assertion_Criteria)		Pathogenic
(Dec 2, 2015) 		germlineclinical testing

HerediLab_Assertion_Criteria.pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From HerediLab, Inc., SCV000259195.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 1, 2023