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NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) AND SERPINA1-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 27, 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:
RCV003401263.5

Allele description [Variation Report for NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser)]

NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser)

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.922G>T (p.Ala308Ser)
HGVS:
  • NC_000014.9:g.94379607C>A
  • NG_008290.1:g.16086G>T
  • NM_000295.5:c.922G>TMANE SELECT
  • NM_001002235.3:c.922G>T
  • NM_001002236.3:c.922G>T
  • NM_001127700.2:c.922G>T
  • NM_001127701.2:c.922G>T
  • NM_001127702.2:c.922G>T
  • NM_001127703.2:c.922G>T
  • NM_001127704.2:c.922G>T
  • NM_001127705.2:c.922G>T
  • NM_001127706.2:c.922G>T
  • NM_001127707.2:c.922G>T
  • NP_000286.3:p.Ala308Ser
  • NP_001002235.1:p.Ala308Ser
  • NP_001002236.1:p.Ala308Ser
  • NP_001121172.1:p.Ala308Ser
  • NP_001121173.1:p.Ala308Ser
  • NP_001121173.1:p.Ala308Ser
  • NP_001121174.1:p.Ala308Ser
  • NP_001121175.1:p.Ala308Ser
  • NP_001121176.1:p.Ala308Ser
  • NP_001121177.1:p.Ala308Ser
  • NP_001121178.1:p.Ala308Ser
  • NP_001121179.1:p.Ala308Ser
  • LRG_575t1:c.922G>T
  • LRG_575:g.16086G>T
  • LRG_575p1:p.Ala308Ser
  • NC_000014.8:g.94845944C>A
  • NM_000295.4:c.922G>T
  • NM_001127701.1:c.922G>T
  • p.Ala308Ser
Protein change:
A308S
Links:
dbSNP: rs141620200
Molecular consequence:
  • NM_000295.5:c.922G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002235.3:c.922G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002236.3:c.922G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127700.2:c.922G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127701.2:c.922G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127702.2:c.922G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127703.2:c.922G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127704.2:c.922G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127705.2:c.922G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127706.2:c.922G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127707.2:c.922G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
SERPINA1-related disorder
Synonyms:
SERPINA1-related condition; SerpinA1-related disorders
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004110652PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Mar 27, 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, SCV004110652.2

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

Description

The SERPINA1 c.922G>T variant is predicted to result in the amino acid substitution p.Ala308Ser. This variant has been reported as a variant of uncertain significance in trans with the common SERPINA1 Z allele as well as the F allele in patients with chronic obstructive pulmonary disease (COPD) (Foil et al. 2018. PubMed ID: 30254761; Ortega et al. 2020. PubMed ID: 31661293). This variant is reported in 0.39% of alleles in individuals of European (Non-Finnish) descent in gnomAD, including one homozygous individual. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Jul 14, 2026

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