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NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 12, 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:
RCV000454204.5

Allele description [Variation Report for NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)]

NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)

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.2368C>T (p.Gln790Ter)
HGVS:
  • NC_000016.10:g.23629786G>A
  • NG_007406.1:g.16572C>T
  • NM_024675.4:c.2368C>TMANE SELECT
  • NP_078951.2:p.Gln790Ter
  • NP_078951.2:p.Gln790Ter
  • LRG_308t1:c.2368C>T
  • LRG_308:g.16572C>T
  • LRG_308p1:p.Gln790Ter
  • NC_000016.9:g.23641107G>A
  • NM_024675.3:c.2368C>T
  • p.Gln790*
Protein change:
Q790*
Links:
dbSNP: rs886039480
NCBI 1000 Genomes Browser:
rs886039480
Molecular consequence:
  • NM_024675.4:c.2368C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000538151Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jun 12, 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, SCV000538151.8

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

Description

The p.Q790* pathogenic mutation (also known as c.2368C>T), located in coding exon 5 of the PALB2 gene, results from a C to T substitution at nucleotide position 2368. This changes the amino acid from a glutamine to a stop codon within coding exon 5. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 29, 2024