NM_000492.3(CFTR):c.1730A>T (p.Tyr577Phe) AND Cystic fibrosis

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(2) (Last evaluated: Jul 22, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000577606.3

Allele description [Variation Report for NM_000492.3(CFTR):c.1730A>T (p.Tyr577Phe)]

NM_000492.3(CFTR):c.1730A>T (p.Tyr577Phe)

Gene:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.3(CFTR):c.1730A>T (p.Tyr577Phe)
HGVS:
  • NC_000007.14:g.117590403A>T
  • NG_016465.4:g.129620A>T
  • NM_000492.3:c.1730A>T
  • NP_000483.3:p.Tyr577Phe
  • LRG_663t1:c.1730A>T
  • LRG_663:g.129620A>T
  • LRG_663p1:p.Tyr577Phe
  • NC_000007.13:g.117230457A>T
Protein change:
Y577F
Links:
dbSNP: rs397508286
NCBI 1000 Genomes Browser:
rs397508286
Molecular consequence:
  • NM_000492.3:c.1730A>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000678926ClinVar Staff, National Center for Biotechnology Information (NCBI)no assertion providednot providedgermlineliterature only

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

SCV000792633Counsylcriteria provided, single submitter
Uncertain significance
(Jul 5, 2017)
unknownclinical testing

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

Citation Link,

SCV001430626Johns Hopkins Genomics, Johns Hopkins Universitycriteria provided, single submitter
Likely benign
(Aug 3, 2020)
germlineclinical testing

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

SCV001822082Nilou-Genome Labcriteria provided, single submitter
Uncertain significance
(Jul 22, 2021)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

Pagani F, Stuani C, Tzetis M, Kanavakis E, Efthymiadou A, Doudounakis S, Casals T, Baralle FE.

Hum Mol Genet. 2003 May 15;12(10):1111-20.

PubMed [citation]
PMID:
12719375

Quantitative methods for the analysis of CFTR transcripts/splicing variants.

Amaral MD, Clarke LA, Ramalho AS, Beck S, Broackes-Carter F, Rowntree R, Mouchel N, Williams SH, Harris A, Tzetis M, Steiner B, Sanz J, Gallati S, Nissim-Rafinifa M, Kerem B, Hefferon T, Cutting GR, Goina E, Pagani F.

J Cyst Fibros. 2004 Aug;3 Suppl 2:17-23. Review.

PubMed [citation]
PMID:
15463919
See all PubMed Citations (4)

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000678926.1

#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, SCV000792633.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Johns Hopkins Genomics, Johns Hopkins University, SCV001430626.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Nilou-Genome Lab, SCV001822082.1

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

Last Updated: Sep 7, 2021

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