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NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 17, 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:
RCV000622899.3

Allele description [Variation Report for NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)]

NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)

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.739C>T (p.Arg247Cys)
Other names:
R223C; SERPINA1, ARG223CYS ON M1V; F variant
HGVS:
  • NC_000014.9:g.94381049G>A
  • NG_008290.1:g.14644C>T
  • NM_000295.5:c.739C>TMANE SELECT
  • NM_001002235.3:c.739C>T
  • NM_001002236.3:c.739C>T
  • NM_001127700.2:c.739C>T
  • NM_001127701.2:c.739C>T
  • NM_001127702.2:c.739C>T
  • NM_001127703.2:c.739C>T
  • NM_001127704.2:c.739C>T
  • NM_001127705.2:c.739C>T
  • NM_001127706.2:c.739C>T
  • NM_001127707.2:c.739C>T
  • NP_000286.3:p.Arg247Cys
  • NP_001002235.1:p.Arg247Cys
  • NP_001002236.1:p.Arg247Cys
  • NP_001121172.1:p.Arg247Cys
  • NP_001121173.1:p.Arg247Cys
  • NP_001121173.1:p.Arg247Cys
  • NP_001121174.1:p.Arg247Cys
  • NP_001121175.1:p.Arg247Cys
  • NP_001121176.1:p.Arg247Cys
  • NP_001121177.1:p.Arg247Cys
  • NP_001121178.1:p.Arg247Cys
  • NP_001121179.1:p.Arg247Cys
  • LRG_575t1:c.739C>T
  • LRG_575:g.14644C>T
  • LRG_575p1:p.Arg247Cys
  • NC_000014.8:g.94847386G>A
  • NM_000295.4:c.739C>T
  • NM_001127701.1:c.739C>T
  • P01009:p.Arg247Cys
Protein change:
R247C; ARG223CYS
Links:
UniProtKB: P01009#VAR_006998; OMIM: 107400.0007; dbSNP: rs28929470
NCBI 1000 Genomes Browser:
rs28929470
Molecular consequence:
  • NM_000295.5:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002235.3:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002236.3:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127700.2:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127701.2:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127702.2:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127703.2:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127704.2:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127705.2:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127706.2:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127707.2:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000740917Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))
Uncertain significance
(Mar 17, 2017)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Characterization of the molecular basis of the alpha 1-antitrypsin F allele.

Okayama H, Brantly M, Holmes M, Crystal RG.

Am J Hum Genet. 1991 Jun;48(6):1154-8.

PubMed [citation]
PMID:
2035534
PMCID:
PMC1683089

A challenging diagnosis of alpha-1-antitrypsin deficiency: identification of a patient with a novel F/Null phenotype.

Ringenbach MR, Banta E, Snyder MR, Craig TJ, Ishmael FT.

Allergy Asthma Clin Immunol. 2011 Nov 13;7(1):18. doi: 10.1186/1710-1492-7-18.

PubMed [citation]
PMID:
22078084
PMCID:
PMC3229436
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000740917.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jul 15, 2024