chr17:41245594:T> Detail (hg19) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,245,594-41,245,594
hg38 chr17:43,093,577-43,093,577 

HGVS

Type Transcript Protein
RefSeq NM_007297.3:c.1813delA NP_009228.2:p.Lys607SerfsTer47
NM_007298.3:c.787+1167delA
NM_007294.3:c.1954delA NP_009225.1:p.Lys654SerfsTer47
Summary

MGeND

Clinical significance Pathogenic
Variant entry 5
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 COSM219054 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2020/10/24 peripheral nerves and autonomic nervous system germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/10/24 hereditary breast and ovarian cancer syndrome germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2021/03/19 prostate germline MGS000049
(TMGS000113) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Pathogenic breast-ovarian cancer, familial, susceptibility to germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Pathogenic breast-ovarian cancer, familial, susceptibility to germline MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
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 unknown Detail
Pathogenic 2024-01-18 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2023-09-20 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-08-15 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic criteria provided, single submitter Breast neoplasm germline Detail
Pathogenic 2017-09-14 criteria provided, single submitter Infiltrating duct carcinoma of breast germline Detail
Pathogenic no assertion criteria provided unknown Detail
Pathogenic 2020-11-30 criteria provided, single submitter Fanconi anemia, complementation group S unknown Detail
Pathogenic no assertion criteria provided Familial cancer of breast germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Breast-ovarian cancer, familial, susceptibility to, 1 NA CLINVAR Detail
0.126 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.1961del (p.Lys654fs) AND Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar Detail
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) AND not provided ClinVar Detail
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) AND Breast neoplasm ClinVar Detail
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) AND Infiltrating duct carcinoma of breast ClinVar Detail
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) AND Malignant tumor of breast ClinVar Detail
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) AND Fanconi anemia, complementation group S ClinVar Detail
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) AND Familial cancer of breast 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
rs80357522 dbSNP
Genome
hg19
Position
chr17:41,245,594-41,245,594
Variant Type
snv
Reference Allele
T
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8650
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)
121294
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.244430886935875E-6
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