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NM_014276.4(RBPJL):c.13G>A (p.Gly5Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 24, 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:
RCV004321072.1

Allele description [Variation Report for NM_014276.4(RBPJL):c.13G>A (p.Gly5Arg)]

NM_014276.4(RBPJL):c.13G>A (p.Gly5Arg)

Genes:
MATN4:matrilin 4 [Gene - OMIM - HGNC]
RBPJL:recombination signal binding protein for immunoglobulin kappa J region like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_014276.4(RBPJL):c.13G>A (p.Gly5Arg)
HGVS:
  • NC_000020.11:g.45306935G>A
  • NG_033953.1:g.6595C>T
  • NM_001281448.2:c.13G>A
  • NM_001281449.2:c.13G>A
  • NM_001393530.1:c.-35+1240C>TMANE SELECT
  • NM_001393531.1:c.-35+1240C>T
  • NM_003833.5:c.-35+1240C>T
  • NM_014276.4:c.13G>AMANE SELECT
  • NM_030590.4:c.-35+1240C>T
  • NM_030592.4:c.-35+1240C>T
  • NP_001268377.1:p.Gly5Arg
  • NP_001268378.1:p.Gly5Arg
  • NP_055091.2:p.Gly5Arg
  • NC_000020.10:g.43935575G>A
  • NM_014276.2:c.13G>A
Protein change:
G5R
Molecular consequence:
  • NM_001393530.1:c.-35+1240C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001393531.1:c.-35+1240C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003833.5:c.-35+1240C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_030590.4:c.-35+1240C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_030592.4:c.-35+1240C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281448.2:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281449.2:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014276.4:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003978046Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 24, 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, SCV003978046.2

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

Description

The c.13G>A (p.G5R) alteration is located in exon 1 (coding exon 1) of the RBPJL gene. This alteration results from a G to A substitution at nucleotide position 13, causing the glycine (G) at amino acid position 5 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 26, 2024