chr16:23614090:T> Detail (hg38) (PALB2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr16:23,625,411-23,625,411
hg38	chr16:23,614,090-23,614,090

HGVS

PALB2

Type	Transcript	Protein
RefSeq	NM_024675.3:c.3115delA	NP_078951.2:p.Asn1039IlefsTer2
Ensemble	ENST00000261584.9:c.3115delA	ENST00000261584.9:p.Asn1039IlefsTer2
	ENST00000561514.3:c.3121delA	ENST00000561514.3:p.Asn1041IlefsTer2
	ENST00000566069.6:c.3115delA	ENST00000566069.6:p.Asn1039IlefsTer2
	ENST00000568219.5:c.2230delA	ENST00000568219.5:p.Asn744IlefsTer2
	ENST00000697374.1:c.2230delA	ENST00000697374.1:p.Asn744IlefsTer2
	ENST00000697376.1:c.2230delA	ENST00000697376.1:p.Asn744IlefsTer2
	ENST00000697377.2:c.2959delA	ENST00000697377.2:p.Asn987IlefsTer2
	ENST00000697379.2:c.3121delA	ENST00000697379.2:p.Asn1041IlefsTer2
	ENST00000697383.1:c.649delA	ENST00000697383.1:p.Asn217IlefsTer2
	ENST00000713774.1:c.3113+7272delA

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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Links

PALB2

Type	Database	ID	Link
Gene	MIM	610355	OMIM
	HGNC	26144	HGNC
	Ensembl	ENSG00000083093	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
risk factor	2007-02-01	no assertion criteria provided	Breast cancer, susceptibility to	germline	Detail
Pathogenic Likely pathogenic	2024-01-28	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	germline unknown	Detail
Pathogenic	2007-02-01	no assertion criteria provided	Fanconi anemia complementation group N	germline	Detail
risk factor	2009-04-10	no assertion criteria provided	Pancreatic cancer, susceptibility to, 3	germline	Detail
Pathogenic	2022-12-13	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2022-02-09	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic		no assertion criteria provided		unknown	Detail
Pathogenic	2021-08-17	criteria provided, single submitter	Familial cancer of breast,Pancreatic cancer, susceptibility to, 3,Fanconi anemia complementation group N	unknown	Detail
Pathogenic	2021-08-17	criteria provided, single submitter	Familial cancer of breast,Pancreatic cancer, susceptibility to, 3,Fanconi anemia complementation group N	unknown	Detail
Pathogenic	2021-08-17	criteria provided, single submitter	Familial cancer of breast,Pancreatic cancer, susceptibility to, 3,Fanconi anemia complementation group N	unknown	Detail
Pathogenic	2021-11-26	criteria provided, single submitter	Breast and/or ovarian cancer	germline	Detail
Pathogenic	2023-05-11	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	FANCONI ANEMIA, COMPLEMENTATION GROUP N	NA	CLINVAR		Detail
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.127	Breast Cancer, Familial	NA	CLINVAR		Detail
0.120	Pancreatic cancer, susceptibility to, 3	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) AND Breast cancer, susceptibility to	ClinVar	Detail
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) AND Familial cancer of breast	ClinVar	Detail
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) AND Fanconi anemia complementation group N	ClinVar	Detail
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) AND Pancreatic cancer, susceptibility to, 3	ClinVar	Detail
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) AND not provided	ClinVar	Detail
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) AND Malignant tumor of breast	ClinVar	Detail
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) AND multiple conditions	ClinVar	Detail
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) AND multiple conditions	ClinVar	Detail
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) AND multiple conditions	ClinVar	Detail
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs180177133 dbSNP
Genome: hg38
Position: chr16:23,614,090-23,614,090
Variant Type: snv
Reference Allele: T
Alternative Allele: -

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