chr16:23636151:A> Detail (hg38) (PALB2)

Information

Genome

Assembly Position
hg19 chr16:23,647,472-23,647,472 
hg38 chr16:23,636,151-23,636,151

HGVS

Type Transcript Protein
RefSeq NM_024675.3:c.395delT NP_078951.2:p.Val132AlafsTer45
Ensemble ENST00000261584.9:c.395delT ENST00000261584.9:p.Val132AlafsTer45
ENST00000561514.3:c.401delT ENST00000561514.3:p.Val134AlafsTer45
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
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 2023-09-06 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline unknown Detail
Pathogenic 2023-03-15 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2019-05-13 no assertion criteria provided Fanconi anemia complementation group N germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 FANCONI ANEMIA, COMPLEMENTATION GROUP N NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_024675.4(PALB2):c.395del (p.Val132fs) AND Familial cancer of breast ClinVar Detail
NM_024675.4(PALB2):c.395del (p.Val132fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_024675.4(PALB2):c.395del (p.Val132fs) AND Fanconi anemia complementation group N ClinVar 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
rs180177085 dbSNP
Genome
hg38
Position
chr16:23,636,151-23,636,151
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)
121368
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)
1.6478808252587174E-5
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