NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Nov 21, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000728194.6

Allele description [Variation Report for NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr)]

NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr)

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.244G>A (p.Ala82Thr)

Other names:

p.Ala82Thr

HGVS:

NC_000014.9:g.94382994C>T
NG_008290.1:g.12699G>A
NM_000295.5:c.244G>AMANE SELECT
NM_001002235.3:c.244G>A
NM_001002236.3:c.244G>A
NM_001127700.2:c.244G>A
NM_001127701.2:c.244G>A
NM_001127702.2:c.244G>A
NM_001127703.2:c.244G>A
NM_001127704.2:c.244G>A
NM_001127705.2:c.244G>A
NM_001127706.2:c.244G>A
NM_001127707.2:c.244G>A
NP_000286.3:p.Ala82Thr
NP_001002235.1:p.Ala82Thr
NP_001002236.1:p.Ala82Thr
NP_001121172.1:p.Ala82Thr
NP_001121173.1:p.Ala82Thr
NP_001121174.1:p.Ala82Thr
NP_001121175.1:p.Ala82Thr
NP_001121176.1:p.Ala82Thr
NP_001121177.1:p.Ala82Thr
NP_001121178.1:p.Ala82Thr
NP_001121179.1:p.Ala82Thr
LRG_575t1:c.244G>A
LRG_575:g.12699G>A
LRG_575p1:p.Ala82Thr
NC_000014.8:g.94849331C>T
NM_000295.4:c.244G>A

Protein change:

A82T

Links:

dbSNP: rs113817720

NCBI 1000 Genomes Browser:

rs113817720

Molecular consequence:

NM_000295.5:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001002235.3:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001002236.3:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127700.2:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127701.2:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127702.2:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127703.2:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127704.2:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127705.2:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127706.2:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127707.2:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000855738	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Jul 12, 2017)	germline	clinical testing	Citation Link,
SCV005409809	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 21, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 32482783, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000855738

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Jul 12, 2017)

germline

clinical testing

Citation Link,

SCV005409809

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 21, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Granularity of SERPINA1 alleles by DNA sequencing in CanCOLD.

Gupta N, Gaudreault N, Thériault S, Li PZ, Henry C, Kirby M, Maltais F, Tan W, Bourbeau J, Bossé Y; Canadian Respiratory Research Network and the CanCOLD study group.

Eur Respir J. 2020 Oct 15;56(4). doi:pii: 2000958. 10.1183/13993003.00958-2020. Print 2020 Oct.

PubMed [citation]

PMID:: 32482783

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Eurofins Ntd Llc (ga), SCV000855738.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV005409809.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 13, 2025

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