chr17:41245201:T>C Detail (hg19) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,245,201-41,245,201
hg38 chr17:43,093,184-43,093,184 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_007298.3:c.787+1560A>G
NM_007294.3:c.2347A>G NP_009225.1:p.Ile783Val
NM_007297.3:c.2206A>G NP_009228.2:p.Ile736Val
Summary

MGeND

Clinical significance Benign
Variant entry 3
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 Conflicting classifications of pathogenicity
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
Benign 2021/03/19 control germline MGS000047
(TMGS000111) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Benign 2021/03/19 Colorectal germline MGS000050
(TMGS000114) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2023-03-23 criteria provided, conflicting interpretations Breast-ovarian cancer, familial, susceptibility to, 1 germline unknown Detail
Benign Likely benign 2023-03-23 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely benign 2019-10-30 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign no assertion criteria provided unknown Detail
Likely benign 2024-01-02 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.080 breast carcinoma Increased risk of breast cancer associated with the I655V allele was also observ... BeFree 14569185 Detail
0.360 Malignant neoplasm of breast Increased risk of breast cancer associated with the I655V allele was also observ... BeFree 14569185 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) AND Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar Detail
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) AND not provided ClinVar Detail
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) AND Malignant tumor of breast ClinVar Detail
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
Increased risk of breast cancer associated with the I655V allele was also observed among BRCA1/2 mut... DisGeNET Detail
Increased risk of breast cancer associated with the I655V allele was also observed among BRCA1/2 mut... 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
rs80356948 dbSNP
Genome
hg19
Position
chr17:41,245,201-41,245,201
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
10
East Asian Heterozygous Counts (ExAC)
10
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.001155802126675913
Chromosome Counts in All Race (ExAC)
121364
Allele Counts in All Race (ExAC)
10
Heterozygous Counts in All Race (ExAC)
10
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.239675686364985E-5
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