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NM_014276.4(RBPJL):c.1436A>G (p.Tyr479Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 20, 2024
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:
RCV004660923.1

Allele description [Variation Report for NM_014276.4(RBPJL):c.1436A>G (p.Tyr479Cys)]

NM_014276.4(RBPJL):c.1436A>G (p.Tyr479Cys)

Gene:
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.1436A>G (p.Tyr479Cys)
HGVS:
  • NC_000020.11:g.45316841A>G
  • NM_001281448.2:c.*30A>G
  • NM_001281449.2:c.1433A>G
  • NM_014276.4:c.1436A>GMANE SELECT
  • NP_001268378.1:p.Tyr478Cys
  • NP_055091.2:p.Tyr479Cys
  • NC_000020.10:g.43945481A>G
  • NM_014276.2:c.1436A>G
Protein change:
Y478C
Molecular consequence:
  • NM_001281448.2:c.*30A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001281449.2:c.1433A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014276.4:c.1436A>G - 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
SCV005159720Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 20, 2024) 		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, SCV005159720.1

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

Description

The c.1436A>G (p.Y479C) alteration is located in exon 12 (coding exon 12) of the RBPJL gene. This alteration results from a A to G substitution at nucleotide position 1436, causing the tyrosine (Y) at amino acid position 479 to be replaced by a cysteine (C). 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: Aug 11, 2024