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NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) AND SERPINA1-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 8, 2024
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:
RCV003409418.7

Allele description [Variation Report for NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)]

NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)

Gene:
SERPINA1:serpin family A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.13
Genomic location:
Preferred name:
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)
HGVS:
  • NC_000014.9:g.94378529G>A
  • NG_008290.1:g.17164C>T
  • NM_000295.5:c.1177C>TMANE SELECT
  • NM_001002235.3:c.1177C>T
  • NM_001002236.3:c.1177C>T
  • NM_001127700.2:c.1177C>T
  • NM_001127701.2:c.1177C>T
  • NM_001127702.2:c.1177C>T
  • NM_001127703.2:c.1177C>T
  • NM_001127704.2:c.1177C>T
  • NM_001127705.2:c.1177C>T
  • NM_001127706.2:c.1177C>T
  • NM_001127707.2:c.1177C>T
  • NP_000286.3:p.Pro393Ser
  • NP_001002235.1:p.Pro393Ser
  • NP_001002236.1:p.Pro393Ser
  • NP_001121172.1:p.Pro393Ser
  • NP_001121173.1:p.Pro393Ser
  • NP_001121173.1:p.Pro393Ser
  • NP_001121174.1:p.Pro393Ser
  • NP_001121175.1:p.Pro393Ser
  • NP_001121176.1:p.Pro393Ser
  • NP_001121177.1:p.Pro393Ser
  • NP_001121178.1:p.Pro393Ser
  • NP_001121179.1:p.Pro393Ser
  • LRG_575t1:c.1177C>T
  • LRG_575:g.17164C>T
  • LRG_575p1:p.Pro393Ser
  • NC_000014.8:g.94844866G>A
  • NM_000295.4:c.1177C>T
  • NM_001127701.1:c.1177C>T
Protein change:
P393S
Links:
dbSNP: rs61761869
NCBI 1000 Genomes Browser:
rs61761869
Molecular consequence:
  • NM_000295.5:c.1177C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002235.3:c.1177C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002236.3:c.1177C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127700.2:c.1177C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127701.2:c.1177C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127702.2:c.1177C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127703.2:c.1177C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127704.2:c.1177C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127705.2:c.1177C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127706.2:c.1177C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127707.2:c.1177C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
SERPINA1-related disorder
Synonyms:
SERPINA1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004114568PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Mar 8, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004114568.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The SERPINA1 c.1177C>T variant is predicted to result in the amino acid substitution p.Pro393Ser. This variant has been reported to be pathogenic for autosomal recessive alpha1-antitrypsin deficiency (Giacopuzzi et al. 2018. PubMed ID: 29882371; Ortega et al. 2019. PubMed ID: 31661293). It is known as the M (Würzburg) allele in the literature. This variant is reported in 0.053% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Taken together, this variant is reported as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024