NM_000295.5(SERPINA1):c.654G>A (p.Trp218Ter) AND Alpha-1-antitrypsin deficiency

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 13, 2017
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:: RCV000666593.1

Allele description [Variation Report for NM_000295.5(SERPINA1):c.654G>A (p.Trp218Ter)]

NM_000295.5(SERPINA1):c.654G>A (p.Trp218Ter)

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.654G>A (p.Trp218Ter)

HGVS:

NC_000014.9:g.94381134C>T
NG_008290.1:g.14559G>A
NM_000295.5:c.654G>AMANE SELECT
NM_001002235.3:c.654G>A
NM_001002236.3:c.654G>A
NM_001127700.2:c.654G>A
NM_001127701.2:c.654G>A
NM_001127702.2:c.654G>A
NM_001127703.2:c.654G>A
NM_001127704.2:c.654G>A
NM_001127705.2:c.654G>A
NM_001127706.2:c.654G>A
NM_001127707.2:c.654G>A
NP_000286.3:p.Trp218Ter
NP_001002235.1:p.Trp218Ter
NP_001002236.1:p.Trp218Ter
NP_001121172.1:p.Trp218Ter
NP_001121173.1:p.Trp218Ter
NP_001121174.1:p.Trp218Ter
NP_001121175.1:p.Trp218Ter
NP_001121176.1:p.Trp218Ter
NP_001121177.1:p.Trp218Ter
NP_001121178.1:p.Trp218Ter
NP_001121179.1:p.Trp218Ter
LRG_575t1:c.654G>A
LRG_575:g.14559G>A
LRG_575p1:p.Trp218Ter
NC_000014.8:g.94847471C>T
NM_000295.4:c.654G>A

Protein change:

W218*

Links:

dbSNP: rs1445192595

NCBI 1000 Genomes Browser:

rs1445192595

Molecular consequence:

NM_000295.5:c.654G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001002235.3:c.654G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001002236.3:c.654G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001127700.2:c.654G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001127701.2:c.654G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001127702.2:c.654G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001127703.2:c.654G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001127704.2:c.654G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001127705.2:c.654G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001127706.2:c.654G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001127707.2:c.654G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000790908	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Apr 13, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000790908

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Apr 13, 2017)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Alpha 1-antitrypsin nonsense mutation associated with a retained truncated protein and reduced mRNA.

Lee J, Novoradovskaya N, Rundquist B, Redwine J, Saltini C, Brantly M.

Mol Genet Metab. 1998 Apr;63(4):270-80.

PubMed [citation]

PMID:: 9635295

Details of each submission

From Counsyl, SCV000790908.1

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

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

Last Updated: Apr 23, 2022

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