NM_000492.4(CFTR):c.2758G>A (p.Val920Met) AND Cystic fibrosis

Clinical significance:Conflicting interpretations of pathogenicity, Pathogenic(1);Uncertain significance(3) (Last evaluated: Jul 22, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
5 submissions [Details]
Record status:
current
Accession:
RCV000577642.4

Allele description [Variation Report for NM_000492.4(CFTR):c.2758G>A (p.Val920Met)]

NM_000492.4(CFTR):c.2758G>A (p.Val920Met)

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.2758G>A (p.Val920Met)
HGVS:
  • NC_000007.14:g.117603632G>A
  • NG_016465.4:g.142849G>A
  • NM_000492.4:c.2758G>AMANE SELECT
  • NP_000483.3:p.Val920Met
  • NP_000483.3:p.Val920Met
  • LRG_663t1:c.2758G>A
  • LRG_663:g.142849G>A
  • LRG_663p1:p.Val920Met
  • NC_000007.13:g.117243686G>A
  • NM_000492.3:c.2758G>A
Protein change:
V920M
Links:
dbSNP: rs373885282
NCBI 1000 Genomes Browser:
rs373885282
Molecular consequence:
  • NM_000492.4:c.2758G>A - 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
SCV000679006ClinVar Staff, National Center for Biotechnology Information (NCBI)no assertion providednot providedgermlineliterature only

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

SCV000788957Counsylcriteria provided, single submitter
Uncertain significance
(Nov 13, 2017)
unknownclinical testing

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

Citation Link,

SCV001137487Mendelicscriteria provided, single submitter
Uncertain significance
(May 28, 2019)
unknownclinical testing

Citation Link,

SCV001424389Centogene AG - the Rare Disease Companycriteria provided, single submitter
Pathogenicgermlineclinical testing

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

SCV001822121Nilou-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 providedclinical testing, literature only
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR.

N Engl J Med. 2002 Aug 8;347(6):401-7.

PubMed [citation]
PMID:
12167682

Novel double mutant CF allele identified in a cystic fibrosis patient with meconium ileus.

Steffann J, Vidaud D, Bousquet S, Jullien M, Ninot A, Kaplan JC, Beldjord C, Bienvenu T.

Ann Genet. 1998;41(4):213-5. No abstract available.

PubMed [citation]
PMID:
9881185
See all PubMed Citations (3)

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000679006.1

#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, SCV000788957.1

#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 Mendelics, SCV001137487.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Centogene AG - the Rare Disease Company, SCV001424389.1

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

From Nilou-Genome Lab, SCV001822121.1

#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: Dec 4, 2021

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