NM_000295.5(SERPINA1):c.538C>G (p.Gln180Glu) AND Alpha-1-antitrypsin deficiency

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 28, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000508737.2

Allele description [Variation Report for NM_000295.5(SERPINA1):c.538C>G (p.Gln180Glu)]

NM_000295.5(SERPINA1):c.538C>G (p.Gln180Glu)

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.538C>G (p.Gln180Glu)

HGVS:

NC_000014.9:g.94382700G>C
NG_008290.1:g.12993C>G
NM_000295.5:c.538C>GMANE SELECT
NM_001002235.3:c.538C>G
NM_001002236.3:c.538C>G
NM_001127700.2:c.538C>G
NM_001127701.2:c.538C>G
NM_001127702.2:c.538C>G
NM_001127703.2:c.538C>G
NM_001127704.2:c.538C>G
NM_001127705.2:c.538C>G
NM_001127706.2:c.538C>G
NM_001127707.2:c.538C>G
NP_000286.3:p.Gln180Glu
NP_001002235.1:p.Gln180Glu
NP_001002236.1:p.Gln180Glu
NP_001121172.1:p.Gln180Glu
NP_001121173.1:p.Gln180Glu
NP_001121174.1:p.Gln180Glu
NP_001121175.1:p.Gln180Glu
NP_001121176.1:p.Gln180Glu
NP_001121177.1:p.Gln180Glu
NP_001121178.1:p.Gln180Glu
NP_001121179.1:p.Gln180Glu
LRG_575t1:c.538C>G
LRG_575:g.12993C>G
LRG_575p1:p.Gln180Glu
NC_000014.8:g.94849037G>C

Protein change:

Q180E

Links:

dbSNP: rs864622051

Molecular consequence:

NM_000295.5:c.538C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001002235.3:c.538C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001002236.3:c.538C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127700.2:c.538C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127701.2:c.538C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127702.2:c.538C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127703.2:c.538C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127704.2:c.538C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127705.2:c.538C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127706.2:c.538C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127707.2:c.538C>G - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000605932	HerediLab, Inc.	criteria provided, single submitter (HerediLab_Assertion_Criteria)	Likely benign (Oct 28, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000605932

HerediLab, Inc.

criteria provided, single submitter

(HerediLab_Assertion_Criteria)

Likely benign
(Oct 28, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From HerediLab, Inc., SCV000605932.2

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

Last Updated: Apr 12, 2026

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