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NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) AND Cystic fibrosis

Germline classification:
risk factor (1 submission)
Last evaluated:
Apr 1, 2019
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:
RCV000991136.10

Allele description [Variation Report for NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)]

NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)

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.863A>T (p.Glu288Val)
Other names:
E264V; PI*S; SERPINA1, GLU264VAL ON M1V; S
HGVS:
  • NC_000014.9:g.94380925T>A
  • NG_008290.1:g.14768A>T
  • NM_000295.5:c.863A>TMANE SELECT
  • NM_001002235.3:c.863A>T
  • NM_001002236.3:c.863A>T
  • NM_001127700.2:c.863A>T
  • NM_001127701.2:c.863A>T
  • NM_001127702.2:c.863A>T
  • NM_001127703.2:c.863A>T
  • NM_001127704.2:c.863A>T
  • NM_001127705.2:c.863A>T
  • NM_001127706.2:c.863A>T
  • NM_001127707.2:c.863A>T
  • NP_000286.3:p.Glu288Val
  • NP_000286.3:p.Glu288Val
  • NP_001002235.1:p.Glu288Val
  • NP_001002236.1:p.Glu288Val
  • NP_001121172.1:p.Glu288Val
  • NP_001121173.1:p.Glu288Val
  • NP_001121173.1:p.Glu288Val
  • NP_001121174.1:p.Glu288Val
  • NP_001121175.1:p.Glu288Val
  • NP_001121176.1:p.Glu288Val
  • NP_001121177.1:p.Glu288Val
  • NP_001121178.1:p.Glu288Val
  • NP_001121179.1:p.Glu288Val
  • LRG_575t1:c.863A>T
  • LRG_575:g.14768A>T
  • LRG_575p1:p.Glu288Val
  • NC_000014.8:g.94847262T>A
  • NM_000295.4:c.863A>T
  • NM_000295.5:c.863A>T
  • NM_001127701.1:c.863A>T
  • P01009:p.Glu288Val
Protein change:
E288V; Glu264Val
Links:
Genetic Testing Registry (GTR): GTR000006840; UniProtKB: P01009#VAR_007000; OMIM: 107400.0013; dbSNP: rs17580
NCBI 1000 Genomes Browser:
rs17580
Molecular consequence:
  • NM_000295.5:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002235.3:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002236.3:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127700.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127701.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127702.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127703.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127704.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127705.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127706.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127707.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cystic fibrosis (CF)
Synonyms:
Mucoviscidosis
Identifiers:
MONDO: MONDO:0009061; MedGen: C0010674; Orphanet: 586; OMIM: 219700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001142523Center for Computational Genomics and Data Science, University of Alabama
no assertion criteria provided
risk factor
(Apr 1, 2019) 		germlineresearch

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes21not provided3not providedresearch

Citations

PubMed

Plasminogen alleles influence susceptibility to invasive aspergillosis.

Zaas AK, Liao G, Chien JW, Weinberg C, Shore D, Giles SS, Marr KA, Usuka J, Burch LH, Perera L, Perfect JR, Peltz G, Schwartz DA.

PLoS Genet. 2008 Jun 20;4(6):e1000101. doi: 10.1371/journal.pgen.1000101.

PubMed [citation]
PMID:
18566672
PMCID:
PMC2423485

Modifier genes in cystic fibrosis-related liver disease.

Debray D, Corvol H, Housset C.

Curr Opin Gastroenterol. 2019 Mar;35(2):88-92. doi: 10.1097/MOG.0000000000000508. Review.

PubMed [citation]
PMID:
30585791
See all PubMed Citations (4)

Details of each submission

From Center for Computational Genomics and Data Science, University of Alabama, SCV001142523.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearch PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes3not providednot provided2not provided1not provided

Last Updated: Oct 26, 2024