NM_001089.3(ABCA3):c.1225C>G (p.Leu409Val) AND Surfactant metabolism dysfunction, pulmonary, 1

Clinical significance:Uncertain significance (Last evaluated: Aug 7, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000714687.2

Allele description [Variation Report for NM_001089.3(ABCA3):c.1225C>G (p.Leu409Val)]

NM_001089.3(ABCA3):c.1225C>G (p.Leu409Val)

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.1225C>G (p.Leu409Val)
HGVS:
  • NC_000016.10:g.2308510G>C
  • NG_011790.1:g.37237C>G
  • NM_001089.3:c.1225C>GMANE SELECT
  • NP_001080.2:p.Leu409Val
  • NC_000016.9:g.2358511G>C
  • NM_001089.2:c.1225C>G
Protein change:
L409V
Links:
dbSNP: rs1567347771
NCBI 1000 Genomes Browser:
rs1567347771
Molecular consequence:
  • NM_001089.3:c.1225C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Surfactant metabolism dysfunction, pulmonary, 1 (SMDP1)
Synonyms:
INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN B DEFICIENCY; INTERSTITIAL LUNG DISEASE, NONSPECIFIC, DUE TO SURFACTANT PROTEIN B DEFICIENCY; PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 1
Identifiers:
MONDO: MONDO:0009929; MedGen: C1968602; Orphanet: 217563; OMIM: 265120

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000845408Genomic Research Center,Shahid Beheshti University of Medical Sciencescriteria provided, single submitter
Uncertain significance
(Aug 7, 2018)
inheritedclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedno1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genomic Research Center,Shahid Beheshti University of Medical Sciences, SCV000845408.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritednonot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 7, 2021

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