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NM_001034853.2(RPGR):c.2919_2939dup (p.970GEGEGEE[3]) AND Primary ciliary dyskinesia

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 31, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002075299.6

Allele description

NM_001034853.2(RPGR):c.2919_2939dup (p.970GEGEGEE[3])

Gene:
RPGR:retinitis pigmentosa GTPase regulator [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_001034853.2(RPGR):c.2919_2939dup (p.970GEGEGEE[3])
HGVS:
  • NC_000023.11:g.38286077_38286097dup
  • NG_009553.1:g.46456_46476dup
  • NM_000328.3:c.1905+1014_1905+1034dup
  • NM_001034853.2:c.2919_2939dupMANE SELECT
  • NM_001367245.1:c.1902+1014_1902+1034dup
  • NM_001367246.1:c.1719+1014_1719+1034dup
  • NM_001367247.1:c.1572+4879_1572+4899dup
  • NM_001367248.1:c.1602+4879_1602+4899dup
  • NM_001367249.1:c.1569+4879_1569+4899dup
  • NM_001367250.1:c.1569+4879_1569+4899dup
  • NM_001367251.1:c.1386+4879_1386+4899dup
  • NP_001030025.1:p.970GEGEGEE[3]
  • NC_000023.10:g.38145312_38145313insTCCCCTTCTCCTTCCTCCCCT
  • NC_000023.10:g.38145330_38145350dup
  • NM_001034853.1:c.2919_2939dup
Links:
dbSNP: rs772859148
NCBI 1000 Genomes Browser:
rs772859148
Molecular consequence:
  • NM_001034853.2:c.2919_2939dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_000328.3:c.1905+1014_1905+1034dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367245.1:c.1902+1014_1902+1034dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367246.1:c.1719+1014_1719+1034dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367247.1:c.1572+4879_1572+4899dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367248.1:c.1602+4879_1602+4899dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367249.1:c.1569+4879_1569+4899dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367250.1:c.1569+4879_1569+4899dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367251.1:c.1386+4879_1386+4899dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Primary ciliary dyskinesia
Synonyms:
Ciliary dyskinesia
Identifiers:
MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265

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    Methohexital
    An intravenous anesthetic with a short duration of action that may be used for induction of anesthesia.<br/>Year introduced: ENALLYNYMALUM was see METHOHEXITAL 1977-1994
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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002374616Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Jan 31, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV002374616.3

#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 16, 2024