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NM_024675.4(PALB2):c.3449T>C (p.Leu1150Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 27, 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:
RCV002460203.2

Allele description [Variation Report for NM_024675.4(PALB2):c.3449T>C (p.Leu1150Pro)]

NM_024675.4(PALB2):c.3449T>C (p.Leu1150Pro)

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.3449T>C (p.Leu1150Pro)
HGVS:
  • NC_000016.10:g.23603571A>G
  • NG_007406.1:g.42787T>C
  • NM_001407296.1:c.3389T>C
  • NM_001407297.1:c.3377T>C
  • NM_001407298.1:c.3287T>C
  • NM_001407299.1:c.3212T>C
  • NM_001407300.1:c.3170T>C
  • NM_001407301.1:c.*84T>C
  • NM_001407302.1:c.*84T>C
  • NM_001407304.1:c.2564T>C
  • NM_001407305.1:c.2564T>C
  • NM_001407306.1:c.2564T>C
  • NM_001407307.1:c.2402T>C
  • NM_001407308.1:c.2327T>C
  • NM_001407309.1:c.2327T>C
  • NM_001407310.1:c.*84T>C
  • NM_001407311.1:c.*84T>C
  • NM_001407312.1:c.1661T>C
  • NM_001407313.1:c.*84T>C
  • NM_001407314.1:c.983T>C
  • NM_024675.4:c.3449T>CMANE SELECT
  • NP_001394225.1:p.Leu1130Pro
  • NP_001394226.1:p.Leu1126Pro
  • NP_001394227.1:p.Leu1096Pro
  • NP_001394228.1:p.Leu1071Pro
  • NP_001394229.1:p.Leu1057Pro
  • NP_001394233.1:p.Leu855Pro
  • NP_001394234.1:p.Leu855Pro
  • NP_001394235.1:p.Leu855Pro
  • NP_001394236.1:p.Leu801Pro
  • NP_001394237.1:p.Leu776Pro
  • NP_001394238.1:p.Leu776Pro
  • NP_001394241.1:p.Leu554Pro
  • NP_001394243.1:p.Leu328Pro
  • NP_078951.2:p.Leu1150Pro
  • NP_078951.2:p.Leu1150Pro
  • LRG_308t1:c.3449T>C
  • LRG_308:g.42787T>C
  • LRG_308p1:p.Leu1150Pro
  • NC_000016.9:g.23614892A>G
  • NM_024675.3:c.3449T>C
Protein change:
L1057P
Molecular consequence:
  • NM_001407296.1:c.3389T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407297.1:c.3377T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407298.1:c.3287T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407299.1:c.3212T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407300.1:c.3170T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407304.1:c.2564T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407305.1:c.2564T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407306.1:c.2564T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407307.1:c.2402T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407308.1:c.2327T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407309.1:c.2327T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407312.1:c.1661T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407314.1:c.983T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024675.4:c.3449T>C - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002618471Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 27, 2021) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives.

Cao AY, Huang J, Hu Z, Li WF, Ma ZL, Tang LL, Zhang B, Su FX, Zhou J, Di GH, Shen KW, Wu J, Lu JS, Luo JM, Yuan WT, Shen ZZ, Huang W, Shao ZM.

Breast Cancer Res Treat. 2009 Apr;114(3):457-62. doi: 10.1007/s10549-008-0036-z. Epub 2008 Apr 30.

PubMed [citation]
PMID:
18446436

Details of each submission

From Ambry Genetics, SCV002618471.2

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

Description

The p.L1150P variant (also known as c.3449T>C), located in coding exon 13 of the PALB2 gene, results from a T to C substitution at nucleotide position 3449. The leucine at codon 1150 is replaced by proline, an amino acid with similar properties. This variant was identified in 1/360 Chinese women with early onset breast cancer who previously tested negative for BRCA1/2 mutations (Cao AY et al. Breast Cancer Res. Treat. 2009 Apr;114:457-62). This amino acid position is highly 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: May 1, 2024