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NM_024675.4(PALB2):c.3125C>G (p.Thr1042Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 2, 2022
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:
RCV000561324.5

Allele description [Variation Report for NM_024675.4(PALB2):c.3125C>G (p.Thr1042Ser)]

NM_024675.4(PALB2):c.3125C>G (p.Thr1042Ser)

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.3125C>G (p.Thr1042Ser)
Other names:
p.T1042S:ACT>AGT
HGVS:
  • NC_000016.10:g.23614080G>C
  • NG_007406.1:g.32278C>G
  • NM_024675.4:c.3125C>GMANE SELECT
  • NP_078951.2:p.Thr1042Ser
  • NP_078951.2:p.Thr1042Ser
  • LRG_308t1:c.3125C>G
  • LRG_308:g.32278C>G
  • LRG_308p1:p.Thr1042Ser
  • NC_000016.9:g.23625401G>C
  • NM_024675.3:c.3125C>G
Protein change:
T1042S
Links:
dbSNP: rs587780215
NCBI 1000 Genomes Browser:
rs587780215
Molecular consequence:
  • NM_024675.4:c.3125C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000665269Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 2, 2022) 		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, SCV000665269.5

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

Description

The p.T1042S variant (also known as c.3125C>G), located in coding exon 11 of the PALB2 gene, results from a C to G substitution at nucleotide position 3125. The threonine at codon 1042 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024