NM_001089.3(ABCA3):c.3902C>G (p.Pro1301Arg) AND Hereditary pulmonary alveolar proteinosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 20, 2021
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:: RCV002357472.1

Allele description [Variation Report for NM_001089.3(ABCA3):c.3902C>G (p.Pro1301Arg)]

NM_001089.3(ABCA3):c.3902C>G (p.Pro1301Arg)

Gene:

ABCA3:ATP binding cassette subfamily A member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_001089.3(ABCA3):c.3902C>G (p.Pro1301Arg)

HGVS:

NC_000016.10:g.2283319G>C
NG_011790.1:g.62428C>G
NG_011790.2:g.62409C>G
NM_001089.3:c.3902C>GMANE SELECT
NP_001080.2:p.Pro1301Arg
NC_000016.9:g.2333320G>C
NM_001089.2:c.3902C>G

Protein change:

P1301R

Molecular consequence:

NM_001089.3:c.3902C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Hereditary pulmonary alveolar proteinosis
Synonyms:: Pulmonary surfactant metabolism dysfunction
Identifiers:: MONDO: MONDO:0012580; MedGen: C3711368; OMIM: PS265120

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002620226	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Sep 20, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002620226

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Sep 20, 2021)

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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002620226.1

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

Description

The p.P1301R variant (also known as c.3902C>G), located in coding exon 23 of the ABCA3 gene, results from a C to G substitution at nucleotide position 3902. The proline at codon 1301 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 29, 2022

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