chr16:23635274:G>A Detail (hg38) (PALB2)

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

Information

Genome

Assembly	Position
hg19	chr16:23,646,595-23,646,595 View the variant detail on this assembly version.
hg38	chr16:23,635,274-23,635,274

HGVS

PALB2

Type	Transcript	Protein
RefSeq	NM_024675.3:c.1272C>T	NP_078951.2:p.Ala424=
Ensemble	ENST00000261584.9:c.1272C>T	ENST00000261584.9:p.Ala424=
	ENST00000561514.3:c.1278C>T	ENST00000561514.3:p.Ala426=
	ENST00000566069.6:c.1272C>T	ENST00000566069.6:p.Ala424=
	ENST00000568219.5:c.387C>T	ENST00000568219.5:p.Ala129=
	ENST00000697374.1:c.387C>T	ENST00000697374.1:p.Ala129=
	ENST00000697376.1:c.387C>T	ENST00000697376.1:p.Ala129=
	ENST00000697377.2:c.1278C>T	ENST00000697377.2:p.Ala426=
	ENST00000697379.2:c.1278C>T	ENST00000697379.2:p.Ala426=
	ENST00000697383.1:c.48+5836C>T
	ENST00000713774.1:c.1272C>T	ENST00000713774.1:p.Ala424=

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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2015-04-24	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Benign Likely benign	2024-01-24	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	germline unknown	Detail
Likely benign	2023-08-15	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Likely benign	2022-07-06	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Likely benign	2022-02-18	criteria provided, single submitter	Familial cancer of breast,Pancreatic cancer, susceptibility to, 3,Fanconi anemia complementation group N	unknown	Detail
Likely benign	2022-02-18	criteria provided, single submitter	Familial cancer of breast,Pancreatic cancer, susceptibility to, 3,Fanconi anemia complementation group N	unknown	Detail
Likely benign	2022-02-18	criteria provided, single submitter	Familial cancer of breast,Pancreatic cancer, susceptibility to, 3,Fanconi anemia complementation group N	unknown	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) AND Familial cancer of breast	ClinVar	Detail
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) AND not specified	ClinVar	Detail
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) AND not provided	ClinVar	Detail
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) AND multiple conditions	ClinVar	Detail
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) AND multiple conditions	ClinVar	Detail
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) 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: rs754720030 dbSNP
Genome: hg38
Position: chr16:23,635,274-23,635,274
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8644
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): 120584
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6585948384528626E-5

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