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NM_024675.4(PALB2):c.1496T>A (p.Leu499Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 5, 2016
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:
RCV000254924.2

Allele description [Variation Report for NM_024675.4(PALB2):c.1496T>A (p.Leu499Ter)]

NM_024675.4(PALB2):c.1496T>A (p.Leu499Ter)

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_024675.4(PALB2):c.1496T>A (p.Leu499Ter)
HGVS:
  • NC_000016.10:g.23635050A>T
  • NG_007406.1:g.11308T>A
  • NM_024675.4:c.1496T>AMANE SELECT
  • NP_078951.2:p.Leu499Ter
  • NP_078951.2:p.Leu499Ter
  • LRG_308t1:c.1496T>A
  • LRG_308:g.11308T>A
  • LRG_308p1:p.Leu499Ter
  • NC_000016.9:g.23646371A>T
  • NM_024675.3:c.1496T>A
Protein change:
L499*
Links:
dbSNP: rs886039620
NCBI 1000 Genomes Browser:
rs886039620
Molecular consequence:
  • NM_024675.4:c.1496T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000322538GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Feb 5, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000322538.7

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

Description

This variant is denoted PALB2 c.1496T>A at the cDNA level and p.Leu499Ter (L499X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Leucine to a premature stop codon (TTG>TAG) ,and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNAdecay. Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic.

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

Last Updated: Sep 29, 2024