chr16:23640597:C>A Detail (hg19) (PALB2)

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

Information

Genome

Assembly	Position
hg19	chr16:23,640,597-23,640,597
hg38	chr16:23,629,276-23,629,276 View the variant detail on this assembly version.

HGVS

PALB2

Type	Transcript	Protein
RefSeq	NM_024675.3:c.2515-1G>T
Ensemble	ENST00000697374.1:c.1630-1G>T
	ENST00000697377.2:c.2521-1G>T
	ENST00000713774.1:c.2515-1G>T
	ENST00000568219.5:c.1630-1G>T
	ENST00000697379.2:c.2521-1G>T
	ENST00000261584.9:c.2515-1G>T
	ENST00000561514.3:c.2521-1G>T
	ENST00000697376.1:c.1630-1G>T
	ENST00000697383.1:c.49-1G>T
	ENST00000566069.6:c.2515-1G>T

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
Show details

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	2009-04-10	no assertion criteria provided	Pancreatic cancer, susceptibility to, 3	germline	Detail
Pathogenic		no assertion criteria provided	not provided	germline	Detail
Pathogenic Likely pathogenic	2023-08-10	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	germline unknown	Detail
Pathogenic	2019-09-01	no assertion criteria provided	Hereditary cancer-predisposing syndrome,Familial cancer of breast	germline	Detail
Pathogenic	2019-09-01	no assertion criteria provided	Hereditary cancer-predisposing syndrome,Familial cancer of breast	germline	Detail
Likely pathogenic	2020-03-27	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.127	Breast Cancer, Familial	NA	CLINVAR		Detail
0.120	Pancreatic cancer, susceptibility to, 3	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
PALB2:c.2515-1G>T AND Pancreatic cancer, susceptibility to, 3	ClinVar	Detail
PALB2:c.2515-1G>T AND not provided	ClinVar	Detail
PALB2:c.2515-1G>T AND Familial cancer of breast	ClinVar	Detail
PALB2:c.2515-1G>T AND multiple conditions	ClinVar	Detail
PALB2:c.2515-1G>T AND multiple conditions	ClinVar	Detail
PALB2:c.2515-1G>T AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs587776417 dbSNP
Genome: hg19
Position: chr16:23,640,597-23,640,597
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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