chr17:41243482:GATT> Detail (hg19) (BRCA1, LOC126862571)

Information

Genome

Assembly Position
hg19 chr17:41,243,482-41,243,485
hg38 chr17:43,091,465-43,091,468 

HGVS

Type Transcript Protein
RefSeq NM_007297.3:c.3922_3925delAATC NP_009228.2:p.Asn1308LysfsTer10
NM_007299.3:c.788-436_788-433delAATC
NM_007300.3:c.4063_4066delAATC NP_009231.2:p.Asn1355LysfsTer10
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 113705 OMIM
HGNC 1100 HGNC
Ensembl ENSG00000012048 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-04-22 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 1 germline maternal not provided somatic unknown Detail
Pathogenic 2024-01-25 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline unknown Detail
Pathogenic 2023-12-14 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2024-02-06 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2016-07-01 criteria provided, single submitter not specified germline Detail
Pathogenic 2017-02-23 criteria provided, single submitter Familial cancer of breast germline Detail
Pathogenic 2020-03-25 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Pathogenic no assertion criteria provided unknown Detail
Pathogenic 2022-04-14 criteria provided, single submitter Fanconi anemia, complementation group S,Breast-ovarian cancer, familial, susceptibility to, 1,Pancreatic cancer, susceptibility to, 4,Familial cancer of breast unknown Detail
Pathogenic 2022-04-14 criteria provided, single submitter Fanconi anemia, complementation group S,Breast-ovarian cancer, familial, susceptibility to, 1,Pancreatic cancer, susceptibility to, 4,Familial cancer of breast unknown Detail
Pathogenic 2022-04-14 criteria provided, single submitter Fanconi anemia, complementation group S,Breast-ovarian cancer, familial, susceptibility to, 1,Pancreatic cancer, susceptibility to, 4,Familial cancer of breast unknown Detail
Pathogenic 2022-04-14 criteria provided, single submitter Fanconi anemia, complementation group S,Breast-ovarian cancer, familial, susceptibility to, 1,Pancreatic cancer, susceptibility to, 4,Familial cancer of breast unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Breast-ovarian cancer, familial, susceptibility to, 1 NA CLINVAR Detail
0.196 Breast Cancer, Familial NA CLINVAR Detail
0.126 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) AND Breast-ovarian cancer, familial, susceptibility ... ClinVar Detail
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) AND not provided ClinVar Detail
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) AND not specified ClinVar Detail
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) AND Familial cancer of breast ClinVar Detail
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) AND Breast and/or ovarian cancer ClinVar Detail
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) AND Malignant tumor of breast ClinVar Detail
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) AND multiple conditions ClinVar Detail
NA DisGeNET 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
rs80357508 dbSNP
Genome
hg19
Position
chr17:41,243,482-41,243,485
Variant Type
snv
Reference Allele
GATT
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8646
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)
121322
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)
1.6485056296467253E-5
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