chr2:201209375:G>A Detail (hg38) (CASP10)

Information

Genome

Assembly Position
hg19 chr2:202,074,098-202,074,098 View the variant detail on this assembly version.
hg38 chr2:201,209,375-201,209,375

HGVS

Type Transcript Protein
RefSeq NM_032974.4:c.1228G>A NP_116756.2:p.Val410Ile
NM_032977.3:c.1228G>A NP_116759.2:p.Val410Ile
NM_001230.4:c.1099G>A NP_001221.2:p.Val367Ile
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
Review star
Show details
Links
Type Database ID Link
Gene MIM 601762 OMIM
HGNC 1500 HGNC
Ensembl ENSG00000003400 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv314191690 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts autoimmune lymphoproliferative syndrome type 2A germline Detail
Benign 2019-04-15 criteria provided, single submitter not provided germline Detail
Benign no assertion criteria provided not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Invasive breast carcinoma In conclusion, our data provide persuasive evidence against an overall associati... BeFree 19423537 Detail
0.001 breast carcinoma Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361... BeFree 19423537 Detail
0.006 Malignant neoplasm of breast Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361... BeFree 19423537 Detail
0.049 Malignant neoplasm of breast As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mu... BeFree 16251207 Detail
0.082 ovarian carcinoma Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... BeFree 20978178 Detail
<0.001 ovarian carcinoma Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... BeFree 20978178 Detail
0.001 breast carcinoma Previous case-control studies have indicated that the polymorphisms CASP8 D302H ... BeFree 20978178 Detail
0.006 Malignant neoplasm of ovary Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... BeFree 20978178 Detail
<0.001 Breast Cancer, Familial Association of the CASP10 V410I variant with reduced familial breast cancer risk... BeFree 16251207 Detail
0.009 breast carcinoma As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mu... BeFree 16251207 Detail
<0.001 Carcinogenesis As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mu... BeFree 16251207 Detail
0.002 ovarian carcinoma Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... BeFree 20978178 Detail
0.280 Malignant neoplasm of ovary Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... BeFree 20978178 Detail
0.280 Malignant neoplasm of ovary Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... BeFree 20978178 Detail
0.003 Malignant neoplasm of ovary Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... BeFree 20978178 Detail
0.006 Malignant neoplasm of breast Previous case-control studies have indicated that the polymorphisms CASP8 D302H ... BeFree 20978178 Detail
0.080 ovarian carcinoma Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... BeFree 20978178 Detail
0.003 Carcinogenesis As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mu... BeFree 16251207 Detail
<0.001 Breast Cancer, Familial Association of the CASP10 V410I variant with reduced familial breast cancer risk... BeFree 16251207 Detail
0.006 Malignant neoplasm of breast As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mu... BeFree 16251207 Detail
0.001 breast carcinoma As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mu... BeFree 16251207 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) AND Autoimmune lymphoproliferative syndrome type 2A ClinVar Detail
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) AND not provided ClinVar Detail
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) AND not specified ClinVar Detail
In conclusion, our data provide persuasive evidence against an overall association between invasive ... DisGeNET Detail
Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361525, CASP10 rs130106... DisGeNET Detail
Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361525, CASP10 rs130106... DisGeNET Detail
As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both ... DisGeNET Detail
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... DisGeNET Detail
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... DisGeNET Detail
Previous case-control studies have indicated that the polymorphisms CASP8 D302H and CASP10 V410I are... DisGeNET Detail
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... DisGeNET Detail
Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction wit... DisGeNET Detail
As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both ... DisGeNET Detail
As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both ... DisGeNET Detail
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... DisGeNET Detail
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... DisGeNET Detail
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... DisGeNET Detail
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... DisGeNET Detail
Previous case-control studies have indicated that the polymorphisms CASP8 D302H and CASP10 V410I are... DisGeNET Detail
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... DisGeNET Detail
As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both ... DisGeNET Detail
Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction wit... DisGeNET Detail
As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both ... DisGeNET Detail
As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both ... 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
rs13010627 dbSNP
Genome
hg38
Position
chr2:201,209,375-201,209,375
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3126734505087883E-4
Chromosome Counts in All Race (ExAC)
121386
Allele Counts in All Race (ExAC)
5165
Heterozygous Counts in All Race (ExAC)
4831
Homozygous Counts in All Race (ExAC)
167
Allele Frequency in All Race (ExAC)
0.04255021172128581
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