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NM_000321.3(RB1):c.1695+30611_1695+30612del AND Retinoblastoma

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000989120.1

Allele description [Variation Report for NM_000321.3(RB1):c.1695+30611_1695+30612del]

NM_000321.3(RB1):c.1695+30611_1695+30612del

Genes:
RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]
LPAR6:lysophosphatidic acid receptor 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q14.2
Genomic location:
Preferred name:
NM_000321.3(RB1):c.1695+30611_1695+30612del
HGVS:
  • NC_000013.11:g.48412054_48412055del
  • NG_009009.1:g.113308_113309del
  • NG_012874.1:g.37650_37651del
  • NG_012874.2:g.37614_37615del
  • NG_127784.1:g.558_559del
  • NM_000321.3:c.1695+30611_1695+30612delMANE SELECT
  • NM_001162497.3:c.369_370del
  • NM_001162498.3:c.369_370delMANE SELECT
  • NM_001377316.2:c.369_370del
  • NM_001377317.2:c.369_370del
  • NM_001407165.1:c.1695+30611_1695+30612del
  • NM_005767.7:c.369_370del
  • NP_001155969.1:p.Lys123fs
  • NP_001155970.1:p.Lys123fs
  • NP_001364245.1:p.Lys123fs
  • NP_001364246.1:p.Lys123fs
  • NP_005758.2:p.Lys123fs
  • LRG_517:g.113308_113309del
  • NC_000013.10:g.48986190_48986191del
  • NC_000013.10:g.48986190_48986191delAC
Protein change:
K123fs
Links:
dbSNP: rs1177544722
NCBI 1000 Genomes Browser:
rs1177544722
Molecular consequence:
  • NM_001162497.3:c.369_370del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001162498.3:c.369_370del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001377316.2:c.369_370del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001377317.2:c.369_370del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005767.7:c.369_370del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000321.3:c.1695+30611_1695+30612del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407165.1:c.1695+30611_1695+30612del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Retinoblastoma (RB1)
Synonyms:
Eye cancer, retinoblastoma; RETINOBLASTOMA, SOMATIC
Identifiers:
MONDO: MONDO:0008380; MeSH: D012175; MedGen: C0035335; Orphanet: 790; OMIM: 180200; Human Phenotype Ontology: HP:0009919

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001139320Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely benign
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001139320.1

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

Last Updated: Sep 1, 2024