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NM_024675.4(PALB2):c.1552T>C (p.Ser518Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 24, 2014
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:
RCV000132235.2

Allele description [Variation Report for NM_024675.4(PALB2):c.1552T>C (p.Ser518Pro)]

NM_024675.4(PALB2):c.1552T>C (p.Ser518Pro)

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.1552T>C (p.Ser518Pro)
HGVS:
  • NC_000016.10:g.23634994A>G
  • NG_007406.1:g.11364T>C
  • NM_024675.4:c.1552T>CMANE SELECT
  • NP_078951.2:p.Ser518Pro
  • NP_078951.2:p.Ser518Pro
  • LRG_308t1:c.1552T>C
  • LRG_308:g.11364T>C
  • LRG_308p1:p.Ser518Pro
  • NC_000016.9:g.23646315A>G
  • NM_024675.3:c.1552T>C
  • p.S518P
Protein change:
S518P
Links:
dbSNP: rs587782735
NCBI 1000 Genomes Browser:
rs587782735
Molecular consequence:
  • NM_024675.4:c.1552T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000187318Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(Apr 24, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000187318.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.S518P variant (also known as c.1552T>C), located in coding exon 4 of the PALB2 gene, results from a T to C substitution at nucleotide position 1552. The serine at codon 518 is replaced by proline, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project.To date, this alteration has been detected with an allele frequency of approximately 0.006% (greater than 16,000 alleles tested) in our clinical cohort (includes this individual). Based on protein sequence alignment, this amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging but tolerated by PolyPhen and SIFT in silico analyses, respectively.Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023