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NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 29, 2018)
Last evaluated:
Jan 31, 2018
Accession:
VCV000188845.1
Variation ID:
188845
Description:
1bp duplication
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NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs)

Allele ID
186924
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
14q32.13
Genomic location
14: 94378547-94378548 (GRCh38) GRCh38 UCSC
14: 94844884-94844885 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_575:g.17145dup
LRG_575t1:c.1158dup LRG_575p1:p.Glu387fs
NC_000014.8:g.94844891dup
... more HGVS
Protein change
E387fs
Other names
-
Canonical SPDI
NC_000014.9:94378547:GGGGGGG:GGGGGGGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA274031
dbSNP: rs764325655
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Jan 31, 2018 RCV000169195.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SERPINA1 - - GRCh38
GRCh38
GRCh37
300 327

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 21, 2014)
criteria provided, single submitter
Method: literature only
Alpha-1-antitrypsin deficiency
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220442.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (4)
Pathogenic
(Jan 31, 2018)
criteria provided, single submitter
Method: clinical testing
Alpha-1-antitrypsin deficiency
Allele origin: germline
Invitae
Accession: SCV000814593.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change results in a premature translational stop signal in the SERPINA1 gene (p.Glu387Argfs*14). While this is not anticipated to result in nonsense mediated … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Identification of compound heterozygous mutation in a Korean patient with alpha 1-antitrypsin deficiency. Ko DH The Korean journal of laboratory medicine 2011 PMID: 22016686
Compound heterozygosity for alpha-1-antitrypsin (S(iiyama) and QO(clayton)) in an Oriental patient. Miyahara N Internal medicine (Tokyo, Japan) 2001 PMID: 11334395
alpha1-antitrypsin gene mutation hot spot associated with the formation of a retained and degraded null variant [corrected; erratum to be published]. Brantly M American journal of respiratory cell and molecular biology 1997 PMID: 9070606
Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele. Faber JP American journal of human genetics 1994 PMID: 7977369

Text-mined citations for rs764325655...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 18, 2021