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NM_000295.5(SERPINA1):c.244G>C (p.Ala82Pro) AND Alpha-1-antitrypsin deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 15, 2017
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:
RCV000768537.1

Allele description [Variation Report for NM_000295.5(SERPINA1):c.244G>C (p.Ala82Pro)]

NM_000295.5(SERPINA1):c.244G>C (p.Ala82Pro)

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.244G>C (p.Ala82Pro)
HGVS:
  • NC_000014.9:g.94382994C>G
  • NG_008290.1:g.12699G>C
  • NM_000295.5:c.244G>CMANE SELECT
  • NM_001002235.3:c.244G>C
  • NM_001002236.3:c.244G>C
  • NM_001127700.2:c.244G>C
  • NM_001127701.2:c.244G>C
  • NM_001127702.2:c.244G>C
  • NM_001127703.2:c.244G>C
  • NM_001127704.2:c.244G>C
  • NM_001127705.2:c.244G>C
  • NM_001127706.2:c.244G>C
  • NM_001127707.2:c.244G>C
  • NP_000286.3:p.Ala82Pro
  • NP_001002235.1:p.Ala82Pro
  • NP_001002236.1:p.Ala82Pro
  • NP_001121172.1:p.Ala82Pro
  • NP_001121173.1:p.Ala82Pro
  • NP_001121174.1:p.Ala82Pro
  • NP_001121175.1:p.Ala82Pro
  • NP_001121176.1:p.Ala82Pro
  • NP_001121177.1:p.Ala82Pro
  • NP_001121178.1:p.Ala82Pro
  • NP_001121179.1:p.Ala82Pro
  • LRG_575t1:c.244G>C
  • LRG_575:g.12699G>C
  • LRG_575p1:p.Ala82Pro
  • NC_000014.8:g.94849331C>G
Protein change:
A82P
Links:
dbSNP: rs113817720
NCBI 1000 Genomes Browser:
rs113817720
Molecular consequence:
  • NM_000295.5:c.244G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002235.3:c.244G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002236.3:c.244G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127700.2:c.244G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127701.2:c.244G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127702.2:c.244G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127703.2:c.244G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127704.2:c.244G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127705.2:c.244G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127706.2:c.244G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127707.2:c.244G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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
    SCV000899237HerediLab, Inc.
    criteria provided, single submitter

    (HerediLab_Assertion_Criteria)    		Pathogenic
    (Sep 15, 2017)     		germlineclinical testing

    Citation Link

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineyes2not providednot providednot providednot providedclinical testing

    Details of each submission

    From HerediLab, Inc., SCV000899237.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided
    2not provided1not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineyesnot providednot providednot provided1not providednot providednot provided
    2germlineyesnot providednot providednot provided1not providednot providednot provided

    Last Updated: Apr 23, 2022