chr16:23607883:G>C 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	chr16:23,619,204-23,619,204 View the variant detail on this assembly version.
hg38	chr16:23,607,883-23,607,883

HGVS

PALB2

Type	Transcript	Protein
RefSeq	NM_024675.3:c.3331C>G	NP_078951.2:p.Pro1111Ala
Ensemble	ENST00000261584.9:c.3331C>G	ENST00000261584.9:p.Pro1111Ala
	ENST00000561514.3:c.3337C>G	ENST00000561514.3:p.Pro1113Ala
	ENST00000566069.6:c.3202-4214C>G
	ENST00000568219.5:c.2446C>G	ENST00000568219.5:p.Pro816Ala
	ENST00000697374.1:c.2446C>G	ENST00000697374.1:p.Pro816Ala
	ENST00000697376.1:c.2317-4214C>G
	ENST00000697377.2:c.3175C>G	ENST00000697377.2:p.Pro1059Ala
	ENST00000697379.2:c.3337C>G	ENST00000697379.2:p.Pro1113Ala
	ENST00000697383.1:c.865C>G	ENST00000697383.1:p.Pro289Ala
	ENST00000713774.1:c.3114-4214C>G

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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
Uncertain significance	2023-12-06	criteria provided, single submitter	Familial cancer of breast	germline	Detail
Uncertain significance	2023-08-24	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2021-11-03	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2023-06-15	criteria provided, multiple submitters, no conflicts	not specified	germline unknown	Detail
Uncertain significance	2022-01-11	criteria provided, single submitter	Fanconi anemia complementation group N,Familial cancer of breast,Pancreatic cancer, susceptibility to, 3	unknown	Detail
Uncertain significance	2022-01-11	criteria provided, single submitter	Fanconi anemia complementation group N,Familial cancer of breast,Pancreatic cancer, susceptibility to, 3	unknown	Detail
Uncertain significance	2022-01-11	criteria provided, single submitter	Fanconi anemia complementation group N,Familial cancer of breast,Pancreatic cancer, susceptibility to, 3	unknown	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala) AND Familial cancer of breast	ClinVar	Detail
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala) AND not provided	ClinVar	Detail
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala) AND not specified	ClinVar	Detail
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala) AND multiple conditions	ClinVar	Detail
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala) AND multiple conditions	ClinVar	Detail
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala) AND multiple conditions	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: rs864622193 dbSNP
Genome: hg38
Position: chr16:23,607,883-23,607,883
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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