NM_000295.5(SERPINA1):c.976G>A (p.Val326Ile) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 5, 2024
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:: RCV000394406.8

Allele description [Variation Report for NM_000295.5(SERPINA1):c.976G>A (p.Val326Ile)]

NM_000295.5(SERPINA1):c.976G>A (p.Val326Ile)

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.976G>A (p.Val326Ile)

Other names:

p.Val326Ile

HGVS:

NC_000014.9:g.94379553C>T
NG_008290.1:g.16140G>A
NM_000295.5:c.976G>AMANE SELECT
NM_001002235.3:c.976G>A
NM_001002236.3:c.976G>A
NM_001127700.2:c.976G>A
NM_001127701.2:c.976G>A
NM_001127702.2:c.976G>A
NM_001127703.2:c.976G>A
NM_001127704.2:c.976G>A
NM_001127705.2:c.976G>A
NM_001127706.2:c.976G>A
NM_001127707.2:c.976G>A
NP_000286.3:p.Val326Ile
NP_001002235.1:p.Val326Ile
NP_001002236.1:p.Val326Ile
NP_001121172.1:p.Val326Ile
NP_001121173.1:p.Val326Ile
NP_001121174.1:p.Val326Ile
NP_001121175.1:p.Val326Ile
NP_001121176.1:p.Val326Ile
NP_001121177.1:p.Val326Ile
NP_001121178.1:p.Val326Ile
NP_001121179.1:p.Val326Ile
LRG_575t1:c.976G>A
LRG_575:g.16140G>A
LRG_575p1:p.Val326Ile
NC_000014.8:g.94845890C>T
NM_000295.4:c.976G>A

Protein change:

V326I

Links:

dbSNP: rs139964603

NCBI 1000 Genomes Browser:

rs139964603

Molecular consequence:

NM_000295.5:c.976G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001002235.3:c.976G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001002236.3:c.976G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127700.2:c.976G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127701.2:c.976G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127702.2:c.976G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127703.2:c.976G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127704.2:c.976G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127705.2:c.976G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127706.2:c.976G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127707.2:c.976G>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
SCV000339683	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Uncertain significance (Apr 6, 2018)	germline	clinical testing	Citation Link,
SCV005409806	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 5, 2024)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 31661293, 33057194, 35982159, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000339683

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Uncertain significance
(Apr 6, 2018)

germline

clinical testing

Citation Link,

SCV005409806

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 5, 2024)

germline

clinical testing

PubMed (4)
[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	7	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The Effects of Rare SERPINA1 Variants on Lung Function and Emphysema in SPIROMICS.

Ortega VE, Li X, O'Neal WK, Lackey L, Ampleford E, Hawkins GA, Grayeski PJ, Laederach A, Barjaktarevic I, Barr RG, Cooper C, Couper D, Han MK, Kanner RE, Kleerup EC, Martinez FJ, Paine R 3rd, Peters SP, Pirozzi C, Rennard SI, Woodruff PG, Hoffman EA, et al.

Am J Respir Crit Care Med. 2020 Mar 1;201(5):540-554. doi: 10.1164/rccm.201904-0769OC.

PubMed [citation]

PMID:: 31661293
PMCID:: PMC7047460

Evidence for 28 genetic disorders discovered by combining healthcare and research data.

Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG; et al.

Nature. 2020 Oct;586(7831):757-762. doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14.

PubMed [citation]

PMID:: 33057194
PMCID:: PMC7116826

See all PubMed Citations (4)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000339683.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	6	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		6	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV005409806.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)

Description

BP4

#	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: Jan 19, 2025

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