chr17:41228596:TAG>AA Detail (hg19) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,228,596-41,228,598
hg38 chr17:43,076,579-43,076,581 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_007300.3:c.4454_4456delinsTT NP_009231.2:p.Pro1485LeufsTer2
NM_007294.3:c.4391_4393delinsTT NP_009225.1:p.Pro1464LeufsTer2
NM_007299.3:c.1079_1081delinsTT NP_009230.2:p.Pro360LeufsTer2
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-09-08 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 1 not provided germline Detail
Pathogenic 2023-12-06 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2022-08-19 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2020-01-01 criteria provided, single submitter Familial cancer of breast germline Detail
Pathogenic 2023-06-29 criteria provided, multiple submitters, no conflicts not provided 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.4391_4393delinsTT (p.Pro1464fs) AND Breast-ovarian cancer, familial, susceptibi... ClinVar Detail
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) AND Familial cancer of breast ClinVar Detail
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) AND not provided 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
rs273900730 dbSNP
Genome
hg19
Position
chr17:41,228,596-41,228,598
Variant Type
snv
Reference Allele
TAG
Alternative Allele
AA
Genome browser