NM_000492.4(CFTR):c.92G>T (p.Arg31Leu) AND Lung disease, non-specific

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 17, 2015
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:: RCV000581319.1

Allele description [Variation Report for NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)]

NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)

Gene:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)

HGVS:

NC_000007.14:g.117504291G>T
NG_016465.4:g.43508G>T
NM_000492.4:c.92G>TMANE SELECT
NP_000483.3:p.Arg31Leu
NP_000483.3:p.Arg31Leu
LRG_663t1:c.92G>T
LRG_663:g.43508G>T
LRG_663p1:p.Arg31Leu
NC_000007.13:g.117144345G>T
NM_000492.3:c.92G>T
P13569:p.Arg31Leu

Protein change:

R31L

Links:

UniProtKB: P13569#VAR_000103; dbSNP: rs149353983

NCBI 1000 Genomes Browser:

rs149353983

Molecular consequence:

NM_000492.4:c.92G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Lung disease, non-specific
Identifiers:: MedGen: C3279211

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000692318	Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	no assertion criteria provided	Uncertain significance (Jun 17, 2015)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000692318

Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

no assertion criteria provided

Uncertain significance
(Jun 17, 2015)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000692318.1

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

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

Last Updated: Sep 29, 2024

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