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NM_198129.4(LAMA3):c.2116C>T (p.Arg706Ter) AND Interstitial lung disease 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 6, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000677218.1

Allele description [Variation Report for NM_198129.4(LAMA3):c.2116C>T (p.Arg706Ter)]

NM_198129.4(LAMA3):c.2116C>T (p.Arg706Ter)

Gene:
LAMA3:laminin subunit alpha 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q11.2
Genomic location:
Preferred name:
NM_198129.4(LAMA3):c.2116C>T (p.Arg706Ter)
HGVS:
  • NC_000018.10:g.23816456C>T
  • NG_007853.2:g.131859C>T
  • NM_001127717.4:c.2116C>T
  • NM_198129.4:c.2116C>TMANE SELECT
  • NP_001121189.2:p.Arg706Ter
  • NP_937762.2:p.Arg706Ter
  • NC_000018.9:g.21396420C>T
  • NM_001127717.2:c.2116C>T
Protein change:
R706*
Links:
dbSNP: rs759225610
NCBI 1000 Genomes Browser:
rs759225610
Molecular consequence:
  • NM_001127717.4:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198129.4:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Interstitial lung disease 2 (ILD2)
Synonyms:
Fibrosing alveolitis, cryptogenic; Familial idiopathic pulmonary fibrosis; Fibrocystic pulmonary dysplasia
Identifiers:
MONDO: MONDO:0800029; MedGen: C5561926; Orphanet: 2032; Orphanet: 79126; OMIM: 178500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000803352Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology
no assertion criteria provided
Uncertain significance
(May 6, 2018) 		germlinecase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcase-control

Details of each submission

From Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, SCV000803352.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023