NM_000492.4(CFTR):c.1519A>G (p.Ile507Val) AND Cystic fibrosis

Clinical significance:Benign/Likely benign (Last evaluated: Dec 4, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000169215.5

Allele description [Variation Report for NM_000492.4(CFTR):c.1519A>G (p.Ile507Val)]

NM_000492.4(CFTR):c.1519A>G (p.Ile507Val)

Genes:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
CFTR-AS1:CFTR antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val)
HGVS:
  • NC_000007.14:g.117559590A>G
  • NG_016465.4:g.98807A>G
  • NM_000492.4:c.1519A>GMANE SELECT
  • NP_000483.3:p.Ile507Val
  • NP_000483.3:p.Ile507Val
  • LRG_663t1:c.1519A>G
  • LRG_663:g.98807A>G
  • LRG_663p1:p.Ile507Val
  • NC_000007.13:g.117199644A>G
  • NM_000492.3:c.1519A>G
  • P13569:p.Ile507Val
Protein change:
I507V
Links:
UniProtKB: P13569#VAR_000169; dbSNP: rs1801178
NCBI 1000 Genomes Browser:
rs1801178
Molecular consequence:
  • NM_000492.4:c.1519A>G - 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
SCV000220474Counsylcriteria provided, single submitter
Likely benign
(Jul 2, 2014)
unknownliterature only

PubMed (4)
[See all records that cite these PMIDs]

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015),

Citation Link,

SCV001137479Mendelicscriteria provided, single submitter
Benign
(May 28, 2019)
unknownclinical testing

Citation Link,

SCV001422196Invitaecriteria provided, single submitter
Benign
(Dec 4, 2020)
germlineclinical testing

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

SCV001460190Natera, Inc.no assertion criteria providedLikely benign
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing, literature only

Citations

PubMed

Cystic fibrosis carrier testing in an ethnically diverse US population.

Rohlfs EM, Zhou Z, Heim RA, Nagan N, Rosenblum LS, Flynn K, Scholl T, Akmaev VR, Sirko-Osadsa DA, Allitto BA, Sugarman EA.

Clin Chem. 2011 Jun;57(6):841-8. doi: 10.1373/clinchem.2010.159285. Epub 2011 Apr 7.

PubMed [citation]
PMID:
21474639

CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?

Rosendahl J, Landt O, Bernadova J, Kovacs P, Teich N, Bödeker H, Keim V, Ruffert C, Mössner J, Kage A, Stumvoll M, Groneberg D, Krüger R, Luck W, Treiber M, Becker M, Witt H.

Gut. 2013 Apr;62(4):582-92. doi: 10.1136/gutjnl-2011-300645. Epub 2012 Mar 17.

PubMed [citation]
PMID:
22427236
See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000220474.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Mendelics, SCV001137479.1

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

From Invitae, SCV001422196.2

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

From Natera, Inc., SCV001460190.1

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

Last Updated: Dec 4, 2021

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