NM_000492.3(CFTR):c.3764C>A (p.Ser1255Ter) AND Cystic fibrosis

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (4 submissions)
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000007545.4

Allele description

NM_000492.3(CFTR):c.3764C>A (p.Ser1255Ter)

Gene:

CFTR:cystic fibrosis transmembrane conductance regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.3(CFTR):c.3764C>A (p.Ser1255Ter)

HGVS:

NC_000007.14:g.117642484C>A
NG_016465.4:g.181701C>A
NM_000492.3:c.3764C>A
NP_000483.3:p.Ser1255Ter
NC_000007.13:g.117282538C>A
NG_016465.1:g.167522C>A
p.Ser1255X

Protein change:

S1255*; SER1255TER

Links:

OMIM: 602421.0021; dbSNP: rs76649725

GMAF:

0.0002(T), 76649725

NCBI 1000 Genomes Browser:

rs76649725

Allele Frequency:

0.0001, GO-ESP

Molecular consequence:

NM_000492.3:c.3764C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Cystic fibrosis (CF)
Identifiers:: MedGen: C0010674; Orphanet: 586; OMIM: 219700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027746	OMIM	no assertion criteria provided	Pathogenic (Dec 13, 1990)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000074988	Invitae,	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000245907	CFTR2 - CFTR2	reviewed by expert panel (Submitter's publication)	Pathogenic	germline	research	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV000486479	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Pathogenic (Jun 8, 2016)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research, literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.

Cutting GR, Kasch LM, Rosenstein BJ, Tsui LC, Kazazian HH Jr, Antonarakis SE.

N Engl J Med. 1990 Dec 13;323(24):1685-9. No abstract available.

PubMed [citation]

PMID:: 2233965

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Castellani C, Cuppens H, Macek M Jr, Cassiman JJ, Kerem E, Durie P, Tullis E, Assael BM, Bombieri C, Brown A, Casals T, Claustres M, Cutting GR, Dequeker E, Dodge J, Doull I, Farrell P, Ferec C, Girodon E, Johannesson M, Kerem B, Knowles M, et al.

J Cyst Fibros. 2008 May;7(3):179-96. doi: 10.1016/j.jcf.2008.03.009. Review.

PubMed [citation]

PMID:: 18456578
PMCID:: PMC2810954

See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000027746.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In an 11-year-old black boy with cystic fibrosis (219700), Cutting et al. (1990) detected a C-to-A change at nucleotide 3896 in exon 20 of the CFTR gene responsible for a stop mutation at amino acid 1255 (S1255X). The boy inherited this mutation from his father. The chromosome inherited from his mother carried another nonsense mutation, gly542-to-ter (602421.0009). The patient had serious pancreatic disease but only mild pulmonary involvement.

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

From Invitae,, SCV000074988.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	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

From CFTR2 - CFTR2, SCV000245907.1

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

#	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

From Counsyl, SCV000486479.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 7, 2017

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