NM_015874.6(RBPJ):c.71G>A (p.Arg24Gln) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 15, 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:: RCV004065931.1

Allele description [Variation Report for NM_015874.6(RBPJ):c.71G>A (p.Arg24Gln)]

NM_015874.6(RBPJ):c.71G>A (p.Arg24Gln)

Genes:

LOC126807011:MED14-independent group 3 enhancer GRCh37_chr4:26407341-26408540 [Gene]
RBPJ:recombination signal binding protein for immunoglobulin kappa J region [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p15.2

Genomic location:

Preferred name:

NM_015874.6(RBPJ):c.71G>A (p.Arg24Gln)

HGVS:

NC_000004.12:g.26406186G>A
NG_030343.1:g.91477G>A
NG_030343.2:g.305739G>A
NG_083332.1:g.568G>A
NM_001363577.2:c.5G>A
NM_001374400.1:c.110G>A
NM_001374401.1:c.68G>A
NM_001374402.1:c.68G>A
NM_001374403.1:c.68G>A
NM_001379406.1:c.68G>A
NM_001379407.1:c.68G>A
NM_001379408.1:c.110G>A
NM_001379409.1:c.65G>A
NM_005349.2:c.110G>A
NM_005349.4:c.110G>A
NM_015874.6:c.71G>AMANE SELECT
NM_203283.5:c.5G>A
NM_203284.3:c.68G>A
NP_001350506.1:p.Arg2Gln
NP_001361329.1:p.Arg37Gln
NP_001361330.1:p.Arg23Gln
NP_001361331.1:p.Arg23Gln
NP_001361332.1:p.Arg23Gln
NP_001366335.1:p.Arg23Gln
NP_001366336.1:p.Arg23Gln
NP_001366337.1:p.Arg37Gln
NP_001366338.1:p.Arg22Gln
NP_005340.2:p.Arg37Gln
NP_056958.3:p.Arg24Gln
NP_976028.2:p.Arg2Gln
NP_976029.1:p.Arg23Gln
NC_000004.11:g.26407808G>A

Protein change:

R22Q

Molecular consequence:

NM_001363577.2:c.5G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374400.1:c.110G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374401.1:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374402.1:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374403.1:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379406.1:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379407.1:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379408.1:c.110G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379409.1:c.65G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005349.4:c.110G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015874.6:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_203283.5:c.5G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_203284.3:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004938889	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 15, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004938889

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 15, 2023)

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, SCV004938889.1

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

Description

The c.110G>A (p.R37Q) alteration is located in exon 4 (coding exon 3) of the RBPJ gene. This alteration results from a G to A substitution at nucleotide position 110, causing the arginine (R) at amino acid position 37 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, 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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