NM_000492.3(CFTR):c.3067_3072del (p.Ile1023_Val1024del) AND multiple conditions

Clinical significance:Pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001004289.1

Allele description [Variation Report for NM_000492.3(CFTR):c.3067_3072del (p.Ile1023_Val1024del)]

NM_000492.3(CFTR):c.3067_3072del (p.Ile1023_Val1024del)

Genes:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
LOC111674472:DNase I hypersensitive sites in introns 16 and 17a of CFTR [Gene]
Variant type:
Deletion
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.3(CFTR):c.3067_3072del (p.Ile1023_Val1024del)
Other names:
CFTR, 3199del6
HGVS:
  • NC_000007.13:g.117250647_117250652del
  • NC_000007.14:g.117610597_117610602del
  • NG_016465.4:g.149814_149819del
  • NG_056128.1:g.3651_3656del
  • NG_056128.2:g.3651_3656del
  • NM_000492.3:c.3067_3072del
  • NP_000483.3:p.Ile1023_Val1024del
  • NP_000483.3:p.Ile1023_Val1024del
  • NP_000483.3:p.Ile1023_Val1024del
  • NP_000483.3:p.Ile1023_Val1024del
  • LRG_663t1:c.3067_3072del
  • LRG_663:g.149814_149819del
  • LRG_663p1:p.Ile1023_Val1024del
  • NC_000007.13:g.117250647_117250652del
  • NC_000007.13:g.117250651_117250656del
  • NC_000007.13:g.117250651_117250656delATAGTG
  • NG_016465.1:g.135635_135640del
  • NM_000492.3:c.3063_3068delAGTGAT
  • NM_000492.3:c.3067_3072delATAGTG
Links:
dbSNP: rs121908767
NCBI 1000 Genomes Browser:
rs121908767
Molecular consequence:
  • NM_000492.3:c.3067_3072del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Cystic fibrosis (CF)
Synonyms:
Mucoviscidosis
Identifiers:
MONDO: MONDO:0009061; MedGen: C0010674; Orphanet: 586; OMIM: 219700
Name:
Congenital bilateral aplasia of vas deferens from CFTR mutation (CBAVD)
Identifiers:
MONDO: MONDO:0010178; MedGen: C0403814; Orphanet: 48; OMIM: 277180

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001163165Baylor Geneticscriteria provided, single submitter
Pathogenicgermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics, SCV001163165.1

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

Last Updated: Sep 18, 2021

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