NM_000492.4(CFTR):c.743+1G>C AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 1, 2019
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:: RCV001509316.5

Allele description [Variation Report for NM_000492.4(CFTR):c.743+1G>C]

NM_000492.4(CFTR):c.743+1G>C

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.743+1G>C

HGVS:

NC_000007.14:g.117535412G>C
NG_016465.4:g.74629G>C
NM_000492.4:c.743+1G>CMANE SELECT
LRG_663t1:c.743+1G>C
LRG_663:g.74629G>C
NC_000007.13:g.117175466G>C
NM_000492.3:c.743+1G>C

Links:

dbSNP: rs397508791

NCBI 1000 Genomes Browser:

rs397508791

Molecular consequence:

NM_000492.4:c.743+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001715950	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 1, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 7472820, 22658665, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001715950

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 1, 2019)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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	not provided	not provided	clinical testing

Citations

PubMed

Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations.

Wilschanski M, Zielenski J, Markiewicz D, Tsui LC, Corey M, Levison H, Durie PR.

J Pediatr. 1995 Nov;127(5):705-10.

PubMed [citation]

PMID:: 7472820

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.

Ooi CY, Durie PR.

J Cyst Fibros. 2012 Sep;11(5):355-62. doi: 10.1016/j.jcf.2012.05.001. Epub 2012 Jun 2. Review.

PubMed [citation]

PMID:: 22658665

See all PubMed Citations (3)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV001715950.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

Description

PVS1, PM2

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

Last Updated: Sep 29, 2024

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