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NM_024675.4(PALB2):c.503C>A (p.Ser168Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 19, 2021
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:
RCV000562468.4

Allele description [Variation Report for NM_024675.4(PALB2):c.503C>A (p.Ser168Ter)]

NM_024675.4(PALB2):c.503C>A (p.Ser168Ter)

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.503C>A (p.Ser168Ter)
HGVS:
  • NC_000016.10:g.23636043G>T
  • NG_007406.1:g.10315C>A
  • NM_024675.4:c.503C>AMANE SELECT
  • NP_078951.2:p.Ser168Ter
  • NP_078951.2:p.Ser168Ter
  • LRG_308t1:c.503C>A
  • LRG_308:g.10315C>A
  • LRG_308p1:p.Ser168Ter
  • NC_000016.9:g.23647364G>T
  • NM_024675.3:c.503C>A
Protein change:
S168*
Links:
dbSNP: rs515726122
NCBI 1000 Genomes Browser:
rs515726122
Molecular consequence:
  • NM_024675.4:c.503C>A - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000670725Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Nov 19, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.

Hellebrand H, Sutter C, Honisch E, Gross E, Wappenschmidt B, Schem C, Deissler H, Ditsch N, Gress V, Kiechle M, Bartram CR, Schmutzler RK, Niederacher D, Arnold N, Meindl A.

Hum Mutat. 2011 Jun;32(6):E2176-88. doi: 10.1002/humu.21478. Epub 2011 Feb 24.

PubMed [citation]
PMID:
21618343

Details of each submission

From Ambry Genetics, SCV000670725.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.S168* pathogenic mutation (also known as c.503C>A), located in coding exon 4 of the PALB2 gene, results from a C to A substitution at nucleotide position 503. This changes the amino acid from a serine to a stop codon within coding exon 4. This mutation was reported in a patient with a personal history of hormone receptor negative breast cancer diagnosed at age 39 and a family history of breast cancer (Hellebrand H et al. Hum. Mutat. 2011 Jun;32:E2176-88). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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