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NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) AND Alpha-1-antitrypsin deficiency

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Mar 24, 2022
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:
RCV000512618.2

Allele description [Variation Report for NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met)]

NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met)

Gene:
SERPINA1:serpin family A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.13
Genomic location:
Preferred name:
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met)
Other names:
T85M; SERPINA1, THR85MET ON M1V
HGVS:
  • NC_000014.9:g.94382912G>A
  • NG_008290.1:g.12781C>T
  • NM_000295.5:c.326C>TMANE SELECT
  • NM_001002235.3:c.326C>T
  • NM_001002236.3:c.326C>T
  • NM_001127700.2:c.326C>T
  • NM_001127701.2:c.326C>T
  • NM_001127702.2:c.326C>T
  • NM_001127703.2:c.326C>T
  • NM_001127704.2:c.326C>T
  • NM_001127705.2:c.326C>T
  • NM_001127706.2:c.326C>T
  • NM_001127707.2:c.326C>T
  • NP_000286.3:p.Thr109Met
  • NP_001002235.1:p.Thr109Met
  • NP_001002236.1:p.Thr109Met
  • NP_001121172.1:p.Thr109Met
  • NP_001121173.1:p.Thr109Met
  • NP_001121174.1:p.Thr109Met
  • NP_001121175.1:p.Thr109Met
  • NP_001121176.1:p.Thr109Met
  • NP_001121177.1:p.Thr109Met
  • NP_001121178.1:p.Thr109Met
  • NP_001121179.1:p.Thr109Met
  • LRG_575t1:c.326C>T
  • LRG_575:g.12781C>T
  • LRG_575p1:p.Thr109Met
  • NC_000014.8:g.94849249G>A
  • NM_000295.4:c.326C>T
  • P01009:p.Thr109Met
Protein change:
T109M; THR85MET
Links:
UniProtKB: P01009#VAR_011620; OMIM: 107400.0040; dbSNP: rs199422213
NCBI 1000 Genomes Browser:
rs199422213
Molecular consequence:
  • NM_000295.5:c.326C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002235.3:c.326C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002236.3:c.326C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127700.2:c.326C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127701.2:c.326C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127702.2:c.326C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127703.2:c.326C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127704.2:c.326C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127705.2:c.326C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127706.2:c.326C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127707.2:c.326C>T - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000608312Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital
no assertion criteria provided
Likely pathogenic
(Dec 8, 2014)
germlinecuration

SCV002788945Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Mar 24, 2022)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital, SCV000608312.1

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

From Fulgent Genetics, Fulgent Genetics, SCV002788945.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023