NM_000492.4(CFTR):c.3529A>T (p.Lys1177Ter) AND Cystic fibrosis

Clinical significance:Likely pathogenic (Last evaluated: Oct 24, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000577595.1

Allele description [Variation Report for NM_000492.4(CFTR):c.3529A>T (p.Lys1177Ter)]

NM_000492.4(CFTR):c.3529A>T (p.Lys1177Ter)

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.3529A>T (p.Lys1177Ter)
HGVS:
  • NC_000007.14:g.117627582A>T
  • NG_016465.4:g.166799A>T
  • NM_000492.4:c.3529A>TMANE SELECT
  • NP_000483.3:p.Lys1177Ter
  • NP_000483.3:p.Lys1177Ter
  • LRG_663t1:c.3529A>T
  • LRG_663:g.166799A>T
  • LRG_663p1:p.Lys1177Ter
  • NC_000007.13:g.117267636A>T
  • NM_000492.3:c.3529A>T
Protein change:
K1177*
Links:
dbSNP: rs397508578
NCBI 1000 Genomes Browser:
rs397508578
Molecular consequence:
  • NM_000492.4:c.3529A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cystic fibrosis (CF)
Synonyms:
Mucoviscidosis
Identifiers:
MONDO: MONDO:0009061; MedGen: C0010674; Orphanet: 586; OMIM: 219700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000679442ClinVar Staff, National Center for Biotechnology Information (NCBI)no assertion providednot providedgermlineliterature only

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

SCV000795024Counsylcriteria provided, single submitter
Likely pathogenic
(Oct 24, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia.

Banjar H, Kambouris M, Meyer BF, al-Mehaidib A, Mogarri I.

Ann Trop Paediatr. 1999 Mar;19(1):69-73.

PubMed [citation]
PMID:
10605524

Cystic fibrosis transmembrane regulator gene mutations in Bahrain.

Eskandarani HA.

J Trop Pediatr. 2002 Dec;48(6):348-50. doi: 10.1093/tropej/48.6.348.

PubMed [citation]
PMID:
12521276

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000679442.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Counsyl, SCV000795024.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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