NM_000295.4(SERPINA1):c.-98delC AND Alpha-1-antitrypsin deficiency

delete

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 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:: RCV000289427.14

Allele description

NM_000295.4(SERPINA1):c.-98delC

Gene:

SERPINA1:serpin family A member 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

14q32.13

Genomic location:

Preferred name:

NM_000295.4(SERPINA1):c.-98delC

HGVS:

NC_000014.9:g.94388657del
NG_008290.1:g.7040del
NM_001002235.3:c.-5+1804del
NM_001002236.3:c.-98del
NM_001127700.2:c.-5+1767del
NM_001127701.2:c.-98del
NM_001127702.2:c.-98del
NM_001127703.2:c.-98del
NM_001127704.2:c.-98del
NM_001127705.2:c.-98del
NM_001127706.2:c.-98del
NM_001127707.2:c.-98del
LRG_575:g.7040del
NC_000014.8:g.94854994del
NM_000295.4:c.-98delC

Links:

dbSNP: rs202122479

Molecular consequence:

NM_001002236.3:c.-98del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001127701.2:c.-98del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001127702.2:c.-98del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001127703.2:c.-98del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001127704.2:c.-98del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001127705.2:c.-98del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001127706.2:c.-98del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001127707.2:c.-98del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001002235.3:c.-5+1804del - intron variant - [Sequence Ontology: SO:0001627]
NM_001127700.2:c.-5+1767del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000389666	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000389666

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000389666.2

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 1, 2026

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