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NM_000295.5(SERPINA1):c.469G>A (p.Asp157Asn) AND Alpha-1-antitrypsin deficiency

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 16, 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:
RCV000853413.1

Allele description [Variation Report for NM_000295.5(SERPINA1):c.469G>A (p.Asp157Asn)]

NM_000295.5(SERPINA1):c.469G>A (p.Asp157Asn)

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.469G>A (p.Asp157Asn)
HGVS:
  • NC_000014.9:g.94382769C>T
  • NG_008290.1:g.12924G>A
  • NM_000295.5:c.469G>AMANE SELECT
  • NM_001002235.3:c.469G>A
  • NM_001002236.3:c.469G>A
  • NM_001127700.2:c.469G>A
  • NM_001127701.2:c.469G>A
  • NM_001127702.2:c.469G>A
  • NM_001127703.2:c.469G>A
  • NM_001127704.2:c.469G>A
  • NM_001127705.2:c.469G>A
  • NM_001127706.2:c.469G>A
  • NM_001127707.2:c.469G>A
  • NP_000286.3:p.Asp157Asn
  • NP_001002235.1:p.Asp157Asn
  • NP_001002236.1:p.Asp157Asn
  • NP_001121172.1:p.Asp157Asn
  • NP_001121173.1:p.Asp157Asn
  • NP_001121174.1:p.Asp157Asn
  • NP_001121175.1:p.Asp157Asn
  • NP_001121176.1:p.Asp157Asn
  • NP_001121177.1:p.Asp157Asn
  • NP_001121178.1:p.Asp157Asn
  • NP_001121179.1:p.Asp157Asn
  • LRG_575t1:c.469G>A
  • LRG_575:g.12924G>A
  • LRG_575p1:p.Asp157Asn
  • NC_000014.8:g.94849106C>T
Protein change:
D157N
Links:
dbSNP: rs1595612771
NCBI 1000 Genomes Browser:
rs1595612771
Molecular consequence:
  • NM_000295.5:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002235.3:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002236.3:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127700.2:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127701.2:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127702.2:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127703.2:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127704.2:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127705.2:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127706.2:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127707.2:c.469G>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
SCV000996319HerediLab, Inc.
no assertion criteria provided
Likely benign
(Oct 16, 2014) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From HerediLab, Inc., SCV000996319.1

#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: Jan 13, 2025