NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe) AND Alpha-1-antitrypsin deficiency

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 18, 2014
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:: RCV000169508.1

Allele description

NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.13

Genomic location:

Preferred name:

NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe)

Other names:

SERPINA1, SER53PHE

HGVS:

NC_000014.9:g.94383008G>A
NG_008290.1:g.12685C>T
NM_000295.4:c.230C>T
NM_001127701.1:c.230C>T
NP_000286.3:p.Ser77Phe
NP_001121173.1:p.Ser77Phe
NC_000014.8:g.94849345G>A
P01009:p.Ser77Phe

Protein change:

S53F; Ser53Phe

Links:

UniProtKB: P01009#VAR_006985; OMIM: 107400.0039; dbSNP: rs55819880

NCBI 1000 Genomes Browser:

rs55819880

Molecular consequence:

NM_001127701.1:c.230C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Alpha-1-antitrypsin deficiency (A1ATD)
Synonyms:: Alpha1-Antitrypsin Deficiency
Identifiers:: MedGen: C0221757; Orphanet: 60; OMIM: 613490
Age of onset:: All ages
Prevalence:: 1-5 / 10 000 60

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000220973	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Pathogenic (Dec 18, 2014)	unknown	literature only	PubMed (6) [See all records that cite these PMIDs] 8340361, 22016686, 8358043, 15486938, 8520784, 1905728 Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015), Citation Link,
SCV000256615	GeneReviews	no assertion criteria provided	Pathogenic (May 1, 2014)	germline	literature only	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000220973

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Pathogenic
(Dec 18, 2014)

unknown

literature only

PubMed (6)
[See all records that cite these PMIDs]

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015),

Citation Link,

SCV000256615

GeneReviews

no assertion criteria provided

Pathogenic
(May 1, 2014)

germline

literature only

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	literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Alpha 1-antitrypsin Siiyama (Ser53-->Phe). Further evidence for intracellular loop-sheet polymerization.

Lomas DA, Finch JT, Seyama K, Nukiwa T, Carrell RW.

J Biol Chem. 1993 Jul 25;268(21):15333-5.

PubMed [citation]

PMID:: 8340361

Identification of compound heterozygous mutation in a Korean patient with alpha 1-antitrypsin deficiency.

Ko DH, Chang HE, Song SH, Yoon H, Park KU, Song J.

Korean J Lab Med. 2011 Oct;31(4):294-7. doi: 10.3343/kjlm.2011.31.4.294. Epub 2011 Oct 3.

PubMed [citation]

PMID:: 22016686
PMCID:: PMC3190011

See all PubMed Citations (6)

Details of each submission

From Counsyl, SCV000220973.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (6)

#	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

From GeneReviews, SCV000256615.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	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: Mar 1, 2017

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