NM_000321.3(RB1):c.88G>C (p.Glu30Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 20, 2017
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:: RCV000567305.3

Allele description [Variation Report for NM_000321.3(RB1):c.88G>C (p.Glu30Gln)]

NM_000321.3(RB1):c.88G>C (p.Glu30Gln)

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.88G>C (p.Glu30Gln)

HGVS:

NC_000013.11:g.48304000G>C
NG_009009.1:g.5254G>C
NM_000321.3:c.88G>CMANE SELECT
NP_000312.2:p.Glu30Gln
NP_000312.2:p.Glu30Gln
LRG_517t1:c.88G>C
LRG_517:g.5254G>C
LRG_517p1:p.Glu30Gln
NC_000013.10:g.48878136G>C
NM_000321.2:c.88G>C

Protein change:

E30Q

Links:

dbSNP: rs1555279228

NCBI 1000 Genomes Browser:

rs1555279228

Molecular consequence:

NM_000321.3:c.88G>C - 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

Recent activity

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Mus musculus H6 homeo box 2 (Hmx2), mRNA
Mus musculus H6 homeo box 2 (Hmx2), mRNA
gi|70608206|ref|NM_145998.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000674721	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 20, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000674721

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 20, 2017)

germline

clinical testing

Citation Link

Help

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, SCV000674721.5

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

Description

The p.E30Q variant (also known as c.88G>C), located in coding exon 1 of the RB1 gene, results from a G to C substitution at nucleotide position 88. The glutamic acid at codon 30 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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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