NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 11, 2013
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:
RCV000151833.5

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000200306Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Uncertain significance
(Oct 11, 2013)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Kinetic characterisation of alpha-1-antitrypsin F as an inhibitor of human neutrophil elastase.

Cook L, Burdon JG, Brenton S, Knight KR, Janus ED.

Pathology. 1996 Aug;28(3):242-7.

PubMed [citation]
PMID:
8912354

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 (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000200306.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

The Arg247Cys variant in SERPINA1, also called the F allele, has been identified in 0.4% (35/8600) of European American chromosomes from a large population by t he NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). This vari ant has been reported to affect protein function (Cook 1996) and may contribute to disease when homozygous or when present with other SERPINA1 variants (Ringenb ach 2011). Computational analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) also support an impact to the protein though their accurac y is not known. In summary, additional information is needed to fully assess the clinical significance of this variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Jul 15, 2024