chr17:43063930:C>G Detail (hg38) (BRCA1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr17:41,215,947-41,215,947 View the variant detail on this assembly version.
hg38	chr17:43,063,930-43,063,930

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.5096G>C	NP_009225.1:p.Arg1699Pro
	NM_007299.3:c.1784G>C	NP_009230.2:p.Arg595Pro
	NM_007300.3:c.5159G>C	NP_009231.2:p.Arg1720Pro
	NM_007298.3:c.1784G>C	NP_009229.2:p.Arg595Pro
	NM_007297.3:c.4955G>C	NP_009228.2:p.Arg1652Pro
Ensemble	ENST00000352993.7:c.1670G>C	ENST00000352993.7:p.Arg557Pro
	ENST00000357654.9:c.5096G>C	ENST00000357654.9:p.Arg1699Pro
	ENST00000461574.2:c.5093G>C	ENST00000461574.2:p.Arg1698Pro
	ENST00000468300.5:c.1784G>C	ENST00000468300.5:p.Arg595Pro
	ENST00000470026.6:c.5096G>C	ENST00000470026.6:p.Arg1699Pro
	ENST00000471181.7:c.5159G>C	ENST00000471181.7:p.Arg1720Pro
	ENST00000473961.6:c.4970G>C	ENST00000473961.6:p.Arg1657Pro
	ENST00000476777.6:c.5090G>C	ENST00000476777.6:p.Arg1697Pro
	ENST00000477152.6:c.5018G>C	ENST00000477152.6:p.Arg1673Pro
	ENST00000478531.6:c.1784G>C	ENST00000478531.6:p.Arg595Pro
	ENST00000484087.6:c.1658G>C	ENST00000484087.6:p.Arg553Pro
	ENST00000489037.2:c.5018G>C	ENST00000489037.2:p.Arg1673Pro
	ENST00000491747.6:c.1784G>C	ENST00000491747.6:p.Arg595Pro
	ENST00000493795.5:c.4955G>C	ENST00000493795.5:p.Arg1652Pro
	ENST00000493919.6:c.1646G>C	ENST00000493919.6:p.Arg549Pro
	ENST00000494123.6:c.5096G>C	ENST00000494123.6:p.Arg1699Pro
	ENST00000497488.2:c.4208G>C	ENST00000497488.2:p.Arg1403Pro
	ENST00000586385.5:c.26G>C	ENST00000586385.5:p.Arg9Pro
	ENST00000591534.5:c.569G>C	ENST00000591534.5:p.Arg190Pro
	ENST00000591849.5:c.-98-13740G>C
	ENST00000618469.2:c.5096G>C	ENST00000618469.2:p.Arg1699Pro
	ENST00000634433.2:c.4973G>C	ENST00000634433.2:p.Arg1658Pro
	ENST00000644379.2:c.5162G>C	ENST00000644379.2:p.Arg1721Pro
	ENST00000644555.2:c.1646G>C	ENST00000644555.2:p.Arg549Pro
	ENST00000713676.1:c.5096G>C	ENST00000713676.1:p.Arg1699Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

Links

BRCA1

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
Conflicting interpretations of pathogenicity	2023-07-01	criteria provided, conflicting interpretations	Breast-ovarian cancer, familial, susceptibility to, 1	not applicable germline unknown	Detail
Likely pathogenic	2023-10-19	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Uncertain significance	2023-10-04	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2024-02-01	criteria provided, single submitter	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
0.280	Malignant neoplasm of ovary	BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermed...	BeFree	22889855	Detail
0.080	breast carcinoma	Measures of genetic risk (report of family history, segregation) were assessed f...	BeFree	22889855	Detail
0.360	Malignant neoplasm of breast	Measures of genetic risk (report of family history, segregation) were assessed f...	BeFree	22889855	Detail
0.082	ovarian carcinoma	BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermed...	BeFree	22889855	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro) AND Familial cancer of breast	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovar...	DisGeNET	Detail
Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G&...	DisGeNET	Detail
Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G&...	DisGeNET	Detail
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovar...	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: rs41293459 dbSNP
Genome: hg38
Position: chr17:43,063,930-43,063,930
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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