chr17:43074471:C>A 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	chr17:41,226,488-41,226,488 View the variant detail on this assembly version.
hg38	chr17:43,074,471-43,074,471

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.4535G>T	NP_009225.1:p.Ser1512Ile
	NM_007299.3:c.1223G>T	NP_009230.2:p.Ser408Ile
	NM_007300.3:c.4598G>T	NP_009231.2:p.Ser1533Ile
	NM_007298.3:c.1223G>T	NP_009229.2:p.Ser408Ile
	NM_007297.3:c.4394G>T	NP_009228.2:p.Ser1465Ile
Ensemble	ENST00000352993.7:c.1109G>T	ENST00000352993.7:p.Ser370Ile
	ENST00000357654.9:c.4535G>T	ENST00000357654.9:p.Ser1512Ile
	ENST00000461574.2:c.4532G>T	ENST00000461574.2:p.Ser1511Ile
	ENST00000468300.5:c.1223G>T	ENST00000468300.5:p.Ser408Ile
	ENST00000470026.6:c.4535G>T	ENST00000470026.6:p.Ser1512Ile
	ENST00000471181.7:c.4598G>T	ENST00000471181.7:p.Ser1533Ile
	ENST00000473961.6:c.4409G>T	ENST00000473961.6:p.Ser1470Ile
	ENST00000476777.6:c.4529G>T	ENST00000476777.6:p.Ser1510Ile
	ENST00000477152.6:c.4457G>T	ENST00000477152.6:p.Ser1486Ile
	ENST00000478531.6:c.1223G>T	ENST00000478531.6:p.Ser408Ile
	ENST00000484087.6:c.1097G>T	ENST00000484087.6:p.Ser366Ile
	ENST00000489037.2:c.4457G>T	ENST00000489037.2:p.Ser1486Ile
	ENST00000491747.6:c.1223G>T	ENST00000491747.6:p.Ser408Ile
	ENST00000493795.5:c.4394G>T	ENST00000493795.5:p.Ser1465Ile
	ENST00000493919.6:c.1085G>T	ENST00000493919.6:p.Ser362Ile
	ENST00000494123.6:c.4535G>T	ENST00000494123.6:p.Ser1512Ile
	ENST00000497488.2:c.3647G>T	ENST00000497488.2:p.Ser1216Ile
	ENST00000586385.5:c.5-10520G>T
	ENST00000591534.5:c.8G>T	ENST00000591534.5:p.Ser3Ile
	ENST00000591849.5:c.-98-24281G>T
	ENST00000618469.2:c.4535G>T	ENST00000618469.2:p.Ser1512Ile
	ENST00000634433.2:c.4412G>T	ENST00000634433.2:p.Ser1471Ile
	ENST00000644379.2:c.4601G>T	ENST00000644379.2:p.Ser1534Ile
	ENST00000644555.2:c.1085G>T	ENST00000644555.2:p.Ser362Ile
	ENST00000700182.1:c.1142G>T	ENST00000700182.1:p.Ser381Ile
	ENST00000713676.1:c.4535G>T	ENST00000713676.1:p.Ser1512Ile

Summary

MGeND

Clinical significance
Variant entry
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	Benign
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	tgv399086919	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2024-04-01	criteria provided, multiple submitters, no conflicts	not provided	unknown germline	Detail
Benign Likely benign	2024-02-01	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Benign	2015-08-10	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline not provided unknown	Detail
Benign	2023-08-15	criteria provided, multiple submitters, no conflicts	not specified	germline unknown	Detail
Benign Likely benign	2020-05-20	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Benign	2021-12-23	criteria provided, single submitter	Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S	unknown	Detail
Benign	2021-12-23	criteria provided, single submitter	Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S	unknown	Detail
Benign	2021-12-23	criteria provided, single submitter	Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S	unknown	Detail
Benign	2021-12-23	criteria provided, single submitter	Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.080	breast carcinoma	Since these BRCA2 variants appear to be polymorphisms in the Cypriot population,...	BeFree	11836613	Detail
0.080	breast carcinoma	Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in...	BeFree	11836613	Detail
0.360	Malignant neoplasm of breast	Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in...	BeFree	11836613	Detail
0.480	Malignant neoplasm of breast	Since these BRCA2 variants appear to be polymorphisms in the Cypriot population,...	BeFree	11836613	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) AND not specified	ClinVar	Detail
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) AND multiple conditions	ClinVar	Detail
Since these BRCA2 variants appear to be polymorphisms in the Cypriot population, we suggest that the...	DisGeNET	Detail
Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family.	DisGeNET	Detail
Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family.	DisGeNET	Detail
Since these BRCA2 variants appear to be polymorphisms in the Cypriot population, we suggest that the...	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: rs1800744 dbSNP
Genome: hg38
Position: chr17:43,074,471-43,074,471
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8640
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): 121344
Allele Counts in All Race (ExAC): 261
Heterozygous Counts in All Race (ExAC): 259
Homozygous Counts in All Race (ExAC): 1
Allele Frequency in All Race (ExAC): 0.0021509098101265825

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