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NM_024675.4(PALB2):c.23C>T (p.Pro8Leu) AND PALB2-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 22, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004529922.2

Allele description [Variation Report for NM_024675.4(PALB2):c.23C>T (p.Pro8Leu)]

NM_024675.4(PALB2):c.23C>T (p.Pro8Leu)

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.23C>T (p.Pro8Leu)
Other names:
p.P8L:CCC>CTC; NP_078951.2:p.Pro8Leu
HGVS:
  • NC_000016.10:g.23641135G>A
  • NG_007406.1:g.5223C>T
  • NM_024675.4:c.23C>TMANE SELECT
  • NP_078951.2:p.Pro8Leu
  • NP_078951.2:p.Pro8Leu
  • LRG_308t1:c.23C>T
  • LRG_308:g.5223C>T
  • LRG_308p1:p.Pro8Leu
  • NC_000016.9:g.23652456G>A
  • NM_024675.3:c.23C>T
  • p.P8L
Protein change:
P8L
Links:
dbSNP: rs150390726
NCBI 1000 Genomes Browser:
rs150390726
Molecular consequence:
  • NM_024675.4:c.23C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
PALB2-related disorder
Synonyms:
PALB2-related condition; PALB2-Related Disorders
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004115008PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Mar 22, 2024)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004115008.2

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

Description

The PALB2 c.23C>T variant is predicted to result in the amino acid substitution p.Pro8Leu. This variant has been reported in individuals with breast and colorectal cancer; however, a causative association has not been established (Ding et al. 2011. PubMed ID: 21113654; Tung et al. 2014. PubMed ID: 25186627, Supplemental Table 2; Maxwell et al. 2014. PubMed ID: 25503501, Supplemental Table 1; Cock-Rada et al. 2018. PubMed ID: 28528518, Table 2; DeRycke et al. 2017. PubMed ID: 28944238, Supplemental Table S2). Functional studies of this variant are conflicting, with some indicating similar function to wild type protein (Rodrigue et al. 2019. PubMed ID: 31586400). This variant is reported in 0.13% of alleles in individuals of African descent in gnomAD. ClinVar classifications range from benign to uncertain, with a consensus of recent classifications pointing toward likely benign (https://www.ncbi.nlm.nih.gov/clinvar/variation/126652/). Although we suspect this alteration is more likely benign, at this time, the clinical significance of this variant is uncertain due to insufficient functional and genetic evidence.

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

Last Updated: Nov 3, 2024