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NM_000492.4(CFTR):c.1375_1383del (p.Ser459_Gly461del) AND not provided

Germline classification:
no classifications from unflagged records (1 submission)
Review status:
no classifications from unflagged records
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000171532.3

Allele description [Variation Report for NM_000492.4(CFTR):c.1375_1383del (p.Ser459_Gly461del)]

NM_000492.4(CFTR):c.1375_1383del (p.Ser459_Gly461del)

Genes:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
CFTR-AS1:CFTR antisense RNA 1 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.1375_1383del (p.Ser459_Gly461del)
HGVS:
  • NC_000007.14:g.117548806_117548814del
  • NG_016465.4:g.88023_88031del
  • NM_000492.4:c.1375_1383delMANE SELECT
  • NP_000483.3:p.Ser459_Gly461del
  • LRG_663:g.88023_88031del
  • NC_000007.13:g.117188860_117188868del
Links:
dbSNP: rs786205658
NCBI 1000 Genomes Browser:
rs786205658
Molecular consequence:
  • NM_000492.4:c.1375_1383del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV000221731.1

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000221731Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
flagged submission
Reason: This record appears to be redundant with a more recent record from the same submitter.
Notes: SCV000221731 appears to be redundant with SCV004807946.

(ACMG Guidelines, 2015)		Likely pathogenicgermlineresearch

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

Last Updated: Aug 11, 2024