chr16:23608021:G>A Detail (hg38) (PALB2)

Information

Genome

Assembly Position
hg19 chr16:23,619,342-23,619,342 View the variant detail on this assembly version.
hg38 chr16:23,608,021-23,608,021

HGVS

Type Transcript Protein
RefSeq NM_024675.3:c.3202-9C>T
Ensemble ENST00000261584.9:c.3202-9C>T
ENST00000561514.3:c.3208-9C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 tgv55054208 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2024-01-21 criteria provided, single submitter Familial cancer of breast germline Detail
Conflicting interpretations of pathogenicity 2015-06-02 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Likely benign no assertion criteria provided Pancreatic cancer, susceptibility to, 3 unknown Detail
Likely benign 2018-05-23 criteria provided, single submitter not provided germline Detail
Likely benign 2021-08-24 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_024675.4(PALB2):c.3202-9C>T AND Familial cancer of breast ClinVar Detail
NM_024675.4(PALB2):c.3202-9C>T AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_024675.4(PALB2):c.3202-9C>T AND Pancreatic cancer, susceptibility to, 3 ClinVar Detail
NM_024675.4(PALB2):c.3202-9C>T AND not provided ClinVar Detail
NM_024675.4(PALB2):c.3202-9C>T AND not specified ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs757444247 dbSNP
Genome
hg38
Position
chr16:23,608,021-23,608,021
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs757444247
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8450
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1834319526627219E-4
Chromosome Counts in All Race (ExAC)
119954
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)
1.66730580055688E-5
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