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NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn) AND PALB2-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 23, 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:
RCV004739637.1

Allele description [Variation Report for NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)]

NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)

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.2201C>A (p.Thr734Asn)
Other names:
p.Thr734Asn
HGVS:
  • NC_000016.10:g.23629953G>T
  • NG_007406.1:g.16405C>A
  • NM_024675.4:c.2201C>AMANE SELECT
  • NP_078951.2:p.Thr734Asn
  • NP_078951.2:p.Thr734Asn
  • LRG_308t1:c.2201C>A
  • LRG_308:g.16405C>A
  • LRG_308p1:p.Thr734Asn
  • NC_000016.9:g.23641274G>T
  • NM_024675.3:c.2201C>A
Protein change:
T734N
Links:
dbSNP: rs878855107
NCBI 1000 Genomes Browser:
rs878855107
Molecular consequence:
  • NM_024675.4:c.2201C>A - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005349065PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Apr 23, 2024) 		germlineclinical testing

Help

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, SCV005349065.1

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

Description

The PALB2 c.2201C>A variant is predicted to result in the amino acid substitution p.Thr734Asn. This variant has been reported in individuals with breast and/or ovarian cancer and in an individual with suspected Lynch syndrome (see, for example, Supplementary Material S1, Gonzalez et al. 2022. PubMed ID: 35610400; Table S2, Yurgelun et al. 2015. PubMed ID: 25980754; Supplementary data, Dorling et al. 2021. PubMed ID: 33471991). It has also been observed in controls (Supplementary data, Dorling et al. 2021. PubMed ID: 33471991). This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD. It is interpreted as uncertain or likely benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/241541/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Jun 29, 2025