chr16:23646278:A> Detail (hg19) (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	chr16:23,646,278-23,646,278
hg38	chr16:23,634,957-23,634,957

HGVS

PALB2

Type	Transcript	Protein
RefSeq	NM_024675.3:c.1589delT	NP_078951.2:p.Leu531CysfsTer30
Ensemble	ENST00000566069.6:c.1589delT	ENST00000566069.6:p.Leu531CysfsTer30
	ENST00000697379.2:c.1595delT	ENST00000697379.2:p.Leu533CysfsTer30
	ENST00000261584.9:c.1589delT	ENST00000261584.9:p.Leu531CysfsTer30
	ENST00000697376.1:c.704delT	ENST00000697376.1:p.Leu236CysfsTer30
	ENST00000561514.3:c.1595delT	ENST00000561514.3:p.Leu533CysfsTer30
	ENST00000697383.1:c.49-5682delT
	ENST00000568219.5:c.704delT	ENST00000568219.5:p.Leu236CysfsTer30
	ENST00000697374.1:c.704delT	ENST00000697374.1:p.Leu236CysfsTer30
	ENST00000697377.2:c.1595delT	ENST00000697377.2:p.Leu533CysfsTer30
	ENST00000713774.1:c.1589delT	ENST00000713774.1:p.Leu531CysfsTer30

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

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
risk factor	2007-03-15	no assertion criteria provided	Breast cancer, susceptibility to	germline	Detail
Pathogenic	2023-04-05	reviewed by expert panel	Familial cancer of breast	germline unknown	Detail
Pathogenic	2023-08-29	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2022-11-29	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2022-08-26	no assertion criteria provided	hereditary breast ovarian cancer syndrome	germline	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
0.063	Malignant neoplasm of breast	Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation...	BeFree	23941127	Detail
0.063	Malignant neoplasm of breast	Our results suggest that it may be appropriate to offer PALB2 c.1592delT mutatio...	BeFree	18628482	Detail
0.025	breast carcinoma	Our results suggest that it may be appropriate to offer PALB2 c.1592delT mutatio...	BeFree	18628482	Detail
0.025	breast carcinoma	Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation...	BeFree	23941127	Detail
0.127	Breast Cancer, Familial	Here we show, by screening for PALB2 mutations in Finland that a frameshift muta...	BeFree	17287723	Detail

Annotation

Annotations

Descrption	Source	Links
NM_024675.4(PALB2):c.1592del (p.Leu531fs) AND Breast cancer, susceptibility to	ClinVar	Detail
NM_024675.4(PALB2):c.1592del (p.Leu531fs) AND Familial cancer of breast	ClinVar	Detail
NM_024675.4(PALB2):c.1592del (p.Leu531fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_024675.4(PALB2):c.1592del (p.Leu531fs) AND not provided	ClinVar	Detail
NM_024675.4(PALB2):c.1592del (p.Leu531fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative No...	DisGeNET	Detail
Our results suggest that it may be appropriate to offer PALB2 c.1592delT mutation testing to Finnish...	DisGeNET	Detail
Our results suggest that it may be appropriate to offer PALB2 c.1592delT mutation testing to Finnish...	DisGeNET	Detail
Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative No...	DisGeNET	Detail
Here we show, by screening for PALB2 mutations in Finland that a frameshift mutation, c.1592delT, is...	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: rs180177102 dbSNP
Genome: hg19
Position: chr16:23,646,278-23,646,278
Variant Type: snv
Reference Allele: A
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121402
Allele Counts in All Race (ExAC): 14
Heterozygous Counts in All Race (ExAC): 14
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.1531935223472431E-4

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