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NM_000295.5(SERPINA1):c.227T>C (p.Phe76Ser) 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:
RCV000512628.1

Allele description [Variation Report for NM_000295.5(SERPINA1):c.227T>C (p.Phe76Ser)]

NM_000295.5(SERPINA1):c.227T>C (p.Phe76Ser)

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.227T>C (p.Phe76Ser)
HGVS:
  • NC_000014.9:g.94383011A>G
  • NG_008290.1:g.12682T>C
  • NM_000295.5:c.227T>CMANE SELECT
  • NM_001002235.3:c.227T>C
  • NM_001002236.3:c.227T>C
  • NM_001127700.2:c.227T>C
  • NM_001127701.2:c.227T>C
  • NM_001127702.2:c.227T>C
  • NM_001127703.2:c.227T>C
  • NM_001127704.2:c.227T>C
  • NM_001127705.2:c.227T>C
  • NM_001127706.2:c.227T>C
  • NM_001127707.2:c.227T>C
  • NP_000286.3:p.Phe76Ser
  • NP_001002235.1:p.Phe76Ser
  • NP_001002236.1:p.Phe76Ser
  • NP_001121172.1:p.Phe76Ser
  • NP_001121173.1:p.Phe76Ser
  • NP_001121174.1:p.Phe76Ser
  • NP_001121175.1:p.Phe76Ser
  • NP_001121176.1:p.Phe76Ser
  • NP_001121177.1:p.Phe76Ser
  • NP_001121178.1:p.Phe76Ser
  • NP_001121179.1:p.Phe76Ser
  • LRG_575t1:c.227T>C
  • LRG_575:g.12682T>C
  • LRG_575p1:p.Phe76Ser
  • NC_000014.8:g.94849348A>G
  • NM_000295.4:c.227T>C
Protein change:
F76S
Links:
dbSNP: rs1555369172
NCBI 1000 Genomes Browser:
rs1555369172
Molecular consequence:
  • NM_000295.5:c.227T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002235.3:c.227T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002236.3:c.227T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127700.2:c.227T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127701.2:c.227T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127702.2:c.227T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127703.2:c.227T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127704.2:c.227T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127705.2:c.227T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127706.2:c.227T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127707.2:c.227T>C - 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
SCV000608308Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital
no assertion criteria provided
Pathogenic
(Dec 8, 2014) 		germlinecuration

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Details of each submission

From Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital, SCV000608308.1

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

Last Updated: Apr 23, 2022