NM_000492.4(CFTR):c.274-1G>A AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Oct 24, 2017
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000224434.7

Allele description [Variation Report for NM_000492.4(CFTR):c.274-1G>A]

NM_000492.4(CFTR):c.274-1G>A

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.274-1G>A

Other names:

406-1G>A; 406-1G->A

HGVS:

NC_000007.14:g.117530898G>A
NG_016465.4:g.70115G>A
NM_000492.4:c.274-1G>AMANE SELECT
LRG_663t1:c.274-1G>A
LRG_663:g.70115G>A
NC_000007.13:g.117170952G>A
NM_000492.3:c.274-1G>A

Links:

dbSNP: rs121908792

NCBI 1000 Genomes Browser:

rs121908792

Molecular consequence:

NM_000492.4:c.274-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV000230105	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Jun 24, 2014)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 10798368, 11668613 Citation Link,
SCV000281344	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 24, 2015)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000889297	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Oct 24, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000230105

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Jun 24, 2014)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000281344

Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 24, 2015)

de novo

clinical testing

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

SCV000889297

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(Oct 24, 2017)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G-->A).

Orozco L, Velázquez R, Zielenski J, Tsui LC, Chávez M, Lezana JL, Saldaña Y, Hernández E, Carnevale A.

Hum Genet. 2000 Mar;106(3):360-5.

PubMed [citation]

PMID:: 10798368

Improved detection of CFTR mutations in Southern California Hispanic CF patients.

Wong LJ, Wang J, Zhang YH, Hsu E, Heim RA, Bowman CM, Woo MS.

Hum Mutat. 2001 Oct;18(4):296-307.

PubMed [citation]

PMID:: 11668613

See all PubMed Citations (4)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000230105.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (2)

#	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		2	not provided	not provided	not provided

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000281344.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	not provided	not provided	not provided	not provided		not provided	0.000112	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000889297.2

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

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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