NM_000295.5(SERPINA1):c.894G>T (p.Lys298Asn) AND Alpha-1-antitrypsin deficiency

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 12, 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:: RCV000508818.2

Allele description [Variation Report for NM_000295.5(SERPINA1):c.894G>T (p.Lys298Asn)]

NM_000295.5(SERPINA1):c.894G>T (p.Lys298Asn)

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.894G>T (p.Lys298Asn)

HGVS:

NC_000014.9:g.94380894C>A
NG_008290.1:g.14799G>T
NM_000295.5:c.894G>TMANE SELECT
NM_001002235.3:c.894G>T
NM_001002236.3:c.894G>T
NM_001127700.2:c.894G>T
NM_001127701.2:c.894G>T
NM_001127702.2:c.894G>T
NM_001127703.2:c.894G>T
NM_001127704.2:c.894G>T
NM_001127705.2:c.894G>T
NM_001127706.2:c.894G>T
NM_001127707.2:c.894G>T
NP_000286.3:p.Lys298Asn
NP_001002235.1:p.Lys298Asn
NP_001002236.1:p.Lys298Asn
NP_001121172.1:p.Lys298Asn
NP_001121173.1:p.Lys298Asn
NP_001121174.1:p.Lys298Asn
NP_001121175.1:p.Lys298Asn
NP_001121176.1:p.Lys298Asn
NP_001121177.1:p.Lys298Asn
NP_001121178.1:p.Lys298Asn
NP_001121179.1:p.Lys298Asn
LRG_575t1:c.894G>T
LRG_575:g.14799G>T
LRG_575p1:p.Lys298Asn
NC_000014.8:g.94847231C>A

Protein change:

K298N

Links:

dbSNP: rs957169128

Molecular consequence:

NM_000295.5:c.894G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001002235.3:c.894G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001002236.3:c.894G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127700.2:c.894G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127701.2:c.894G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127702.2:c.894G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127703.2:c.894G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127704.2:c.894G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127705.2:c.894G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127706.2:c.894G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127707.2:c.894G>T - 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
SCV000605927	HerediLab, Inc.	criteria provided, single submitter (HerediLab_Assertion_Criteria)	Likely benign (Jan 12, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000605927

HerediLab, Inc.

criteria provided, single submitter

(HerediLab_Assertion_Criteria)

Likely benign
(Jan 12, 2017)

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., SCV000605927.2

#	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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