NM_000321.3(RB1):c.560C>G (p.Ser187Cys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 1, 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:: RCV002350550.2

Allele description [Variation Report for NM_000321.3(RB1):c.560C>G (p.Ser187Cys)]

NM_000321.3(RB1):c.560C>G (p.Ser187Cys)

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.560C>G (p.Ser187Cys)

HGVS:

NC_000013.11:g.48348976C>G
NG_009009.1:g.50230C>G
NM_000321.3:c.560C>GMANE SELECT
NP_000312.2:p.Ser187Cys
LRG_517t1:c.560C>G
LRG_517:g.50230C>G
NC_000013.10:g.48923112C>G
NM_000321.2:c.560C>G

Protein change:

S187C

Links:

dbSNP: rs770277291

NCBI 1000 Genomes Browser:

rs770277291

Molecular consequence:

NM_000321.3:c.560C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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MID1IP1 MID1 interacting protein 1 [Homo sapiens]
MID1IP1 MID1 interacting protein 1 [Homo sapiens]
Gene ID:58526

Gene
58526[uid] AND (alive[prop]) (1)
Gene
Acute Pain Management: Operative or Medical Procedures and Trauma
Acute Pain Management: Operative or Medical Procedures and Trauma
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002648367	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002648367

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 1, 2022)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002648367.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.S187C variant (also known as c.560C>G), located in coding exon 6 of the RB1 gene, results from a C to G substitution at nucleotide position 560. The serine at codon 187 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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