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NM_000321.3(RB1):c.485T>A (p.Phe162Tyr) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 24, 2022
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:
RCV002505547.1

Allele description [Variation Report for NM_000321.3(RB1):c.485T>A (p.Phe162Tyr)]

NM_000321.3(RB1):c.485T>A (p.Phe162Tyr)

Gene:
RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.2
Genomic location:
Preferred name:
NM_000321.3(RB1):c.485T>A (p.Phe162Tyr)
HGVS:
  • NC_000013.11:g.48345184T>A
  • NG_009009.1:g.46438T>A
  • NM_000321.3:c.485T>AMANE SELECT
  • NP_000312.2:p.Phe162Tyr
  • LRG_517t1:c.485T>A
  • LRG_517:g.46438T>A
  • NC_000013.10:g.48919320T>A
  • NM_000321.2:c.485T>A
Protein change:
F162Y
Links:
dbSNP: rs764881599
NCBI 1000 Genomes Browser:
rs764881599
Molecular consequence:
  • NM_000321.3:c.485T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Bone osteosarcoma
Synonyms:
Osteosarcoma, somatic
Identifiers:
MONDO: MONDO:0002629; MedGen: C0585442; Orphanet: 668; OMIM: 259500
Name:
Malignant tumor of urinary bladder
Synonyms:
Urinary bladder cancer; Urinary Bladder Neoplasms; Bladder cancer
Identifiers:
MONDO: MONDO:0001187; MedGen: C0005684; OMIM: 109800
Name:
Small cell lung carcinoma
Synonyms:
Small cell lung cancer; SMALL CELL CANCER OF THE LUNG, SOMATIC; Lung oat cell carcinoma
Identifiers:
MONDO: MONDO:0008433; MeSH: D055752; MedGen: C0149925; Orphanet: 70573; OMIM: 182280; Human Phenotype Ontology: HP:0030357
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002798765Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(May 24, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002798765.1

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

Last Updated: Feb 25, 2025