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NM_000321.3(RB1):c.1509T>C (p.Ser503=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 22, 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:
RCV004525261.1

Allele description [Variation Report for NM_000321.3(RB1):c.1509T>C (p.Ser503=)]

NM_000321.3(RB1):c.1509T>C (p.Ser503=)

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.1509T>C (p.Ser503=)
HGVS:
  • NC_000013.11:g.48381257T>C
  • NG_009009.1:g.82511T>C
  • NM_000321.3:c.1509T>CMANE SELECT
  • NM_001407165.1:c.1509T>C
  • NM_001407166.1:c.1509T>C
  • NP_000312.2:p.Ser503=
  • NP_000312.2:p.Ser503=
  • NP_001394094.1:p.Ser503=
  • NP_001394095.1:p.Ser503=
  • LRG_517t1:c.1509T>C
  • LRG_517:g.82511T>C
  • LRG_517p1:p.Ser503=
  • NC_000013.10:g.48955393T>C
  • NM_000321.2:c.1509T>C
Links:
dbSNP: rs2138144863
NCBI 1000 Genomes Browser:
rs2138144863
Molecular consequence:
  • NM_000321.3:c.1509T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407165.1:c.1509T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407166.1:c.1509T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Hereditary neoplastic syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005034420Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 22, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005034420.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025