chr16:23607891:T> Detail (hg38) (PALB2)

Information

Genome

Assembly Position
hg19 chr16:23,619,212-23,619,212 
hg38 chr16:23,607,891-23,607,891

HGVS

Type Transcript Protein
RefSeq NM_024675.3:c.3323delA NP_078951.2:p.Tyr1108SerfsTer16
Ensemble ENST00000261584.9:c.3323delA ENST00000261584.9:p.Tyr1108SerfsTer16
ENST00000561514.3:c.3329delA ENST00000561514.3:p.Tyr1110SerfsTer16
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 2018-06-28 criteria provided, single submitter Fanconi anemia complementation group N maternal Detail
Pathogenic 2022-03-22 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2024-01-12 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline unknown Detail
Pathogenic 2023-01-05 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2022-04-16 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Pathogenic no assertion criteria provided unknown Detail
Pathogenic 2021-08-12 criteria provided, single submitter Pancreatic cancer, susceptibility to, 3,Familial cancer of breast,Fanconi anemia complementation group N unknown Detail
Pathogenic 2021-08-12 criteria provided, single submitter Pancreatic cancer, susceptibility to, 3,Familial cancer of breast,Fanconi anemia complementation group N unknown Detail
Pathogenic 2021-08-12 criteria provided, single submitter Pancreatic cancer, susceptibility to, 3,Familial cancer of breast,Fanconi anemia complementation group N unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 FANCONI ANEMIA, COMPLEMENTATION GROUP N NA CLINVAR Detail
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.127 Breast Cancer, Familial NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) AND Fanconi anemia complementation group N ClinVar Detail
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) AND Familial cancer of breast ClinVar Detail
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) AND not provided ClinVar Detail
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) AND Malignant tumor of breast ClinVar Detail
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) AND multiple conditions ClinVar Detail
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) AND multiple conditions ClinVar Detail
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
NA DisGeNET 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
rs180177135 dbSNP
Genome
hg38
Position
chr16:23,607,891-23,607,891
Variant Type
snv
Reference Allele
T
Alternative Allele
-
Genome browser