chr16:23607914:A>C Detail (hg38) (PALB2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr16:23,619,235-23,619,235 View the variant detail on this assembly version.
hg38	chr16:23,607,914-23,607,914

HGVS

PALB2

Type	Transcript	Protein
RefSeq	NM_024675.3:c.3300T>G	NP_078951.2:p.Thr1100=
Ensemble	ENST00000261584.9:c.3300T>G	ENST00000261584.9:p.Thr1100=
	ENST00000561514.3:c.3306T>G	ENST00000561514.3:p.Thr1102=
	ENST00000566069.6:c.3202-4245T>G
	ENST00000568219.5:c.2415T>G	ENST00000568219.5:p.Thr805=
	ENST00000697374.1:c.2415T>G	ENST00000697374.1:p.Thr805=
	ENST00000697376.1:c.2317-4245T>G
	ENST00000697377.2:c.3144T>G	ENST00000697377.2:p.Thr1048=
	ENST00000697379.2:c.3306T>G	ENST00000697379.2:p.Thr1102=
	ENST00000697383.1:c.834T>G	ENST00000697383.1:p.Thr278=
	ENST00000713774.1:c.3114-4245T>G

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	Benign Likely benign
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	tgv394723726	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign Likely benign	2024-02-01	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	germline	Detail
Benign Likely benign	2020-08-24	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Benign	2023-08-15	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Benign	2018-01-13	criteria provided, single submitter	Fanconi anemia complementation group N	germline	Detail
Benign	2015-03-03	criteria provided, single submitter	not provided	germline	Detail
Benign		no assertion criteria provided		unknown	Detail
Benign	2022-04-19	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Likely benign	2021-08-06	criteria provided, single submitter	Familial cancer of breast,Pancreatic cancer, susceptibility to, 3,Fanconi anemia complementation group N	unknown	Detail
Likely benign	2021-08-06	criteria provided, single submitter	Familial cancer of breast,Pancreatic cancer, susceptibility to, 3,Fanconi anemia complementation group N	unknown	Detail
Likely benign	2021-08-06	criteria provided, single submitter	Familial cancer of breast,Pancreatic cancer, susceptibility to, 3,Fanconi anemia complementation group N	unknown	Detail
Benign	2023-07-07	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 5	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) AND Familial cancer of breast	ClinVar	Detail
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) AND not specified	ClinVar	Detail
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) AND Fanconi anemia complementation group N	ClinVar	Detail
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) AND not provided	ClinVar	Detail
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) AND Malignant tumor of breast	ClinVar	Detail
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) AND multiple conditions	ClinVar	Detail
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) AND multiple conditions	ClinVar	Detail
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) AND multiple conditions	ClinVar	Detail
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) AND Breast-ovarian cancer, familial, susceptibility to, 5	ClinVar	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: rs45516100 dbSNP
Genome: hg38
Position: chr16:23,607,914-23,607,914
Variant Type: snv
Reference Allele: A
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1555350127108852E-4
Chromosome Counts in All Race (ExAC): 121404
Allele Counts in All Race (ExAC): 2855
Heterozygous Counts in All Race (ExAC): 2765
Homozygous Counts in All Race (ExAC): 45
Allele Frequency in All Race (ExAC): 0.023516523343547164

Genome browser