NM_002894.3(RBBP8):c.139C>T (p.Gln47Ter) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 10, 2020
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:: RCV000429695.3

Allele description [Variation Report for NM_002894.3(RBBP8):c.139C>T (p.Gln47Ter)]

NM_002894.3(RBBP8):c.139C>T (p.Gln47Ter)

Gene:

RBBP8:RB binding protein 8, endonuclease [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q11.2

Genomic location:

Preferred name:

NM_002894.3(RBBP8):c.139C>T (p.Gln47Ter)

HGVS:

NC_000018.10:g.22946473C>T
NG_012121.1:g.18142C>T
NM_002894.3:c.139C>TMANE SELECT
NM_203291.2:c.139C>T
NM_203292.2:c.139C>T
NP_002885.1:p.Gln47Ter
NP_976036.1:p.Gln47Ter
NP_976037.1:p.Gln47Ter
NC_000018.9:g.20526436C>T
NM_002894.2:c.139C>T

Protein change:

Q47*

Links:

dbSNP: rs762396810

NCBI 1000 Genomes Browser:

rs762396810

Molecular consequence:

NM_002894.3:c.139C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_203291.2:c.139C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_203292.2:c.139C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000536046	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Aug 10, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000536046

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Aug 10, 2020)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000536046.6

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Jul 23, 2024

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