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NM_001317778.2(SFTPC):c.201+49C>A AND Surfactant metabolism dysfunction, pulmonary, 2

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 15, 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:
RCV001807510.2

Allele description [Variation Report for NM_001317778.2(SFTPC):c.201+49C>A]

NM_001317778.2(SFTPC):c.201+49C>A

Gene:
SFTPC:surfactant protein C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p21.3
Genomic location:
Preferred name:
NM_001317778.2(SFTPC):c.201+49C>A
HGVS:
  • NC_000008.11:g.22162781C>A
  • NG_016968.1:g.6111C>A
  • NG_029659.1:g.2642C>A
  • NM_001172357.2:c.201+49C>A
  • NM_001172410.2:c.201+49C>A
  • NM_001317778.2:c.201+49C>AMANE SELECT
  • NM_001317779.2:c.43-299C>A
  • NM_001317780.2:c.201+49C>A
  • NM_001385653.1:c.201+49C>A
  • NM_001385654.1:c.201+49C>A
  • NM_001385655.1:c.201+49C>A
  • NM_001385656.1:c.201+49C>A
  • NM_001385657.1:c.201+49C>A
  • NM_001385658.1:c.201+49C>A
  • NM_001385659.1:c.201+49C>A
  • NM_001385660.1:c.43-299C>A
  • NM_003018.4:c.201+49C>A
  • NC_000008.10:g.22020294C>A
Links:
dbSNP: rs2070684
NCBI 1000 Genomes Browser:
rs2070684
Molecular consequence:
  • NM_001172357.2:c.201+49C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001172410.2:c.201+49C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001317778.2:c.201+49C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001317779.2:c.43-299C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001317780.2:c.201+49C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385653.1:c.201+49C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385654.1:c.201+49C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385655.1:c.201+49C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385656.1:c.201+49C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385657.1:c.201+49C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385658.1:c.201+49C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385659.1:c.201+49C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385660.1:c.43-299C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003018.4:c.201+49C>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Surfactant metabolism dysfunction, pulmonary, 2 (SMDP2)
Synonyms:
DESQUAMATIVE INTERSTITIAL PNEUMONITIS DUE TO SURFACTANT PROTEIN C DEFICIENCY; INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN C DEFICIENCY; PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 2
Identifiers:
MONDO: MONDO:0024465; MedGen: C1970470; OMIM: 610913

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002055162Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 15, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot 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 Genome-Nilou Lab, SCV002055162.1

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

Last Updated: Sep 29, 2024