NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) AND Alpha-1-antitrypsin deficiency

Clinical significance:Uncertain significance (Last evaluated: Jan 8, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000148880.1

Allele description [Variation Report for NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu)]

NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu)

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.17C>T (p.Ser6Leu)
HGVS:
  • NC_000014.9:g.94383221G>A
  • NG_008290.1:g.12472C>T
  • NM_000295.5:c.17C>TMANE SELECT
  • NM_001002235.3:c.17C>T
  • NM_001002236.3:c.17C>T
  • NM_001127700.2:c.17C>T
  • NM_001127701.2:c.17C>T
  • NM_001127702.2:c.17C>T
  • NM_001127703.2:c.17C>T
  • NM_001127704.2:c.17C>T
  • NM_001127705.2:c.17C>T
  • NM_001127706.2:c.17C>T
  • NM_001127707.2:c.17C>T
  • NP_000286.3:p.Ser6Leu
  • NP_001002235.1:p.Ser6Leu
  • NP_001002236.1:p.Ser6Leu
  • NP_001121172.1:p.Ser6Leu
  • NP_001121172.1:p.Ser6Leu
  • NP_001121173.1:p.Ser6Leu
  • NP_001121174.1:p.Ser6Leu
  • NP_001121175.1:p.Ser6Leu
  • NP_001121176.1:p.Ser6Leu
  • NP_001121177.1:p.Ser6Leu
  • NP_001121178.1:p.Ser6Leu
  • NP_001121179.1:p.Ser6Leu
  • LRG_575t1:c.17C>T
  • LRG_575:g.12472C>T
  • LRG_575p1:p.Ser6Leu
  • NC_000014.8:g.94849558G>A
  • NM_000295.4:c.17C>T
  • NM_001127700.1:c.17C>T
Protein change:
S6L
Links:
OMIM: 107400.0032; dbSNP: rs140814100
NCBI 1000 Genomes Browser:
rs140814100
Molecular consequence:
  • NM_000295.5:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002235.3:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002236.3:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127700.2:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127701.2:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127702.2:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127703.2:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127704.2:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127705.2:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127706.2:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127707.2:c.17C>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
SCV000190624CSER _CC_NCGL, University of Washington - ESP 6500 variant annotationno assertion criteria providedUncertain significance
(Jun 1, 2014)
germlineresearch

SCV000608303Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospitalno assertion criteria providedPathogenic
(Dec 8, 2014)
germlineclinical testing

SCV000796829Counsylcriteria provided, single submitter
Uncertain significance
(Jan 8, 2018)
unknownclinical testing

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

Citation Link

Description

Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript

SCV000190624

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu).

Graham A, Kalsheker NA, Bamforth FJ, Newton CR, Markham AF.

Hum Genet. 1990 Oct;85(5):537-40.

PubMed [citation]
PMID:
2227940

Details of each submission

From CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation, SCV000190624.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital, SCV000608303.1

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

From Counsyl, SCV000796829.1

#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: Sep 18, 2021

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