chr16:23623045:TT> Detail (hg38) (PALB2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr16:23,634,366-23,634,367
hg38	chr16:23,623,045-23,623,046

HGVS

PALB2

Type	Transcript	Protein
RefSeq	NM_024675.3:c.2919_2920delAA	NP_078951.2:p.Lys974GlufsTer5
Ensemble	ENST00000261584.9:c.2919_2920delAA	ENST00000261584.9:p.Lys974GlufsTer5
	ENST00000561514.3:c.2925_2926delAA	ENST00000561514.3:p.Lys976GlufsTer5
	ENST00000566069.6:c.2919_2920delAA	ENST00000566069.6:p.Lys974GlufsTer5
	ENST00000568219.5:c.2034_2035delAA	ENST00000568219.5:p.Lys679GlufsTer5
	ENST00000697374.1:c.2034_2035delAA	ENST00000697374.1:p.Lys679GlufsTer5
	ENST00000697376.1:c.2034_2035delAA	ENST00000697376.1:p.Lys679GlufsTer5
	ENST00000697377.2:c.2763_2764delAA	ENST00000697377.2:p.Lys922GlufsTer5
	ENST00000697379.2:c.2925_2926delAA	ENST00000697379.2:p.Lys976GlufsTer5
	ENST00000697383.1:c.453_454delAA	ENST00000697383.1:p.Lys152GlufsTer5
	ENST00000713774.1:c.2919_2920delAA	ENST00000713774.1:p.Lys974GlufsTer5

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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
Pathogenic	2023-12-06	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	germline unknown	Detail
Pathogenic	2022-04-27	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2022-11-16	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2017-03-13	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2019-06-05	criteria provided, single submitter	Fanconi anemia complementation group N	germline	Detail
Pathogenic	2022-05-19	criteria provided, single submitter	Familial cancer of breast,Pancreatic cancer, susceptibility to, 3,Fanconi anemia complementation group N	unknown	Detail
Pathogenic	2022-05-19	criteria provided, single submitter	Familial cancer of breast,Pancreatic cancer, susceptibility to, 3,Fanconi anemia complementation group N	unknown	Detail
Pathogenic	2022-05-19	criteria provided, single submitter	Familial cancer of breast,Pancreatic cancer, susceptibility to, 3,Fanconi anemia complementation group N	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.127	Breast Cancer, Familial	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) AND Familial cancer of breast	ClinVar	Detail
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) AND not provided	ClinVar	Detail
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) AND Fanconi anemia complementation group N	ClinVar	Detail
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) AND multiple conditions	ClinVar	Detail
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) AND multiple conditions	ClinVar	Detail
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) AND multiple conditions	ClinVar	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: rs180177126 dbSNP
Genome: hg38
Position: chr16:23,623,045-23,623,046
Variant Type: snv
Reference Allele: TT
Alternative Allele: -

Genome browser