VCV000440497.2 - ClinVar

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

Germline

Classification

criteria provided, single submitter. Learn more about how ClinVar calculates review status.

Likely benign
Likely benign (1)

This classification is based on the single submission received

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

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

Variation ID: 440497 Accession: VCV000440497.2

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 14q32.13 14: 94382700 (GRCh38) [ NCBI UCSC ] 14: 94849037 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Oct 1, 2017	Dec 11, 2022	Oct 28, 2016

HGVS

Nucleotide	Protein	Molecular consequence
NM_000295.5:c.538C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000286.3:p.Gln180Glu	missense
NM_001002235.3:c.538C>G	NP_001002235.1:p.Gln180Glu	missense
NM_001002236.3:c.538C>G	NP_001002236.1:p.Gln180Glu	missense
NM_001127700.2:c.538C>G	NP_001121172.1:p.Gln180Glu	missense
NM_001127701.2:c.538C>G	NP_001121173.1:p.Gln180Glu	missense
NM_001127702.2:c.538C>G	NP_001121174.1:p.Gln180Glu	missense
NM_001127703.2:c.538C>G	NP_001121175.1:p.Gln180Glu	missense
NM_001127704.2:c.538C>G	NP_001121176.1:p.Gln180Glu	missense
NM_001127705.2:c.538C>G	NP_001121177.1:p.Gln180Glu	missense
NM_001127706.2:c.538C>G	NP_001121178.1:p.Gln180Glu	missense
NM_001127707.2:c.538C>G	NP_001121179.1:p.Gln180Glu	missense
NC_000014.9:g.94382700G>C
NC_000014.8:g.94849037G>C
NG_008290.1:g.12993C>G
LRG_575:g.12993C>G
LRG_575t1:c.538C>G	LRG_575p1:p.Gln180Glu

... more HGVS ... less HGVS

Protein change

Q180E

Other names

Canonical SPDI

NC_000014.9:94382699:G:C

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

The Genome Aggregation Database (gnomAD) 0.00001

Trans-Omics for Precision Medicine (TOPMed) 0.00001

The Genome Aggregation Database (gnomAD) 0.00002

Links

ClinGen: CA390849523 dbSNP: rs864622051 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
SERPINA1		Gene associated with autosomal recessive phenotype	No evidence available	GRCh38 GRCh38 GRCh37	532	568

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Alpha-1-antitrypsin deficiency	Likely benign (1)	criteria provided, single submitter	Oct 28, 2016	RCV000508737.2

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	Expand all rows Collapse all rows Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Likely benign (Oct 28, 2016) C Contributing to aggregate classification	criteria provided, single submitter (HerediLab_Assertion_Criteria)	Alpha-1 Antitrypsin Deficiency	HerediLab, Inc. Accession: SCV000605932.2 First in ClinVar: Oct 01, 2017 Last updated: Dec 11, 2022	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Citations for germline classification of this variant

There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs864622051 ...

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 Apr 13, 2026