NM_000295.5(SERPINA1):c.899T>G (p.Leu300Arg) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 22, 2015
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:: RCV002369991.2

Allele description [Variation Report for NM_000295.5(SERPINA1):c.899T>G (p.Leu300Arg)]

NM_000295.5(SERPINA1):c.899T>G (p.Leu300Arg)

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.899T>G (p.Leu300Arg)

HGVS:

NC_000014.9:g.94380889A>C
NG_008290.1:g.14804T>G
NM_000295.5:c.899T>GMANE SELECT
NM_001002235.3:c.899T>G
NM_001002236.3:c.899T>G
NM_001127700.2:c.899T>G
NM_001127701.2:c.899T>G
NM_001127702.2:c.899T>G
NM_001127703.2:c.899T>G
NM_001127704.2:c.899T>G
NM_001127705.2:c.899T>G
NM_001127706.2:c.899T>G
NM_001127707.2:c.899T>G
NP_000286.3:p.Leu300Arg
NP_001002235.1:p.Leu300Arg
NP_001002236.1:p.Leu300Arg
NP_001121172.1:p.Leu300Arg
NP_001121173.1:p.Leu300Arg
NP_001121174.1:p.Leu300Arg
NP_001121175.1:p.Leu300Arg
NP_001121176.1:p.Leu300Arg
NP_001121177.1:p.Leu300Arg
NP_001121178.1:p.Leu300Arg
NP_001121179.1:p.Leu300Arg
LRG_575t1:c.899T>G
LRG_575:g.14804T>G
LRG_575p1:p.Leu300Arg
NC_000014.8:g.94847226A>C
NM_000295.4:c.899T>G

Protein change:

L300R

Links:

dbSNP: rs550592374

NCBI 1000 Genomes Browser:

rs550592374

Molecular consequence:

NM_000295.5:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001002235.3:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001002236.3:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127700.2:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127701.2:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127702.2:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127703.2:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127704.2:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127705.2:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127706.2:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127707.2:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

variation affecting protein structure [Variation Ontology: 0060]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Chediak-Higashi Syndrome
Chediak-Higashi Syndrome
A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. ...<br/>Year introduced: 1971

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002683738	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 22, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002683738

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 22, 2015)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002683738.2

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

Description

The p.L300R variant (also known as c.899T>G), located in coding exon 2 of the SERPINA1 gene, results from a T to G substitution at nucleotide position 899. The leucine at codon 300 is replaced by arginine, an amino acid with dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species on limited alignment. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

#	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: Sep 29, 2024

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