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NM_000321.3(RB1):c.40_41delinsCT (p.Ala14Leu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 10, 2023
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:
RCV003171434.2

Allele description [Variation Report for NM_000321.3(RB1):c.40_41delinsCT (p.Ala14Leu)]

NM_000321.3(RB1):c.40_41delinsCT (p.Ala14Leu)

Gene:
RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
13q14.2
Genomic location:
Preferred name:
NM_000321.3(RB1):c.40_41delinsCT (p.Ala14Leu)
HGVS:
  • NC_000013.11:g.48303952_48303953delinsCT
  • NG_009009.1:g.5206_5207delinsCT
  • NG_127783.1:g.448_449delinsCT
  • NM_000321.3:c.40_41delinsCTMANE SELECT
  • NM_001407165.1:c.40_41delinsCT
  • NM_001407166.1:c.40_41delinsCT
  • NM_001407167.1:c.40_41delinsCT
  • NP_000312.2:p.Ala14Leu
  • NP_000312.2:p.Ala14Leu
  • NP_001394094.1:p.Ala14Leu
  • NP_001394095.1:p.Ala14Leu
  • NP_001394096.1:p.Ala14Leu
  • LRG_517t1:c.40_41delGCinsCT
  • LRG_517:g.5206_5207delinsCT
  • LRG_517p1:p.Ala14Leu
  • NC_000013.10:g.48878088_48878089delinsCT
  • NM_000321.2:c.40_41delGCinsCT
Protein change:
A14L
Molecular consequence:
  • NM_000321.3:c.40_41delinsCT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407165.1:c.40_41delinsCT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407166.1:c.40_41delinsCT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407167.1:c.40_41delinsCT - 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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003854401Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 10, 2023) 		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, SCV003854401.2

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

Description

The c.40_41delGCinsCT variant, located in coding exon 1 of the RB1 gene, results from an in-frame deletion of GC and insertion of CT at nucleotide positions 40 to 41. This results in the substitution of the alanine residue for a leucine residue at codon 14, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024