chr17:43104150:A>G Detail (hg38) (BRCA1)

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

Information

Genome

Assembly	Position
hg19	chr17:41,256,167-41,256,167 View the variant detail on this assembly version.
hg38	chr17:43,104,150-43,104,150

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.413T>C	NP_009225.1:p.Leu138Pro
	NM_007299.3:c.413T>C	NP_009230.2:p.Leu138Pro
	NM_007300.3:c.413T>C	NP_009231.2:p.Leu138Pro
	NM_007298.3:c.413T>C	NP_009229.2:p.Leu138Pro
	NM_007297.3:c.272T>C	NP_009228.2:p.Leu91Pro
Ensemble	ENST00000352993.7:c.413T>C	ENST00000352993.7:p.Leu138Pro
	ENST00000357654.9:c.413T>C	ENST00000357654.9:p.Leu138Pro
	ENST00000461574.2:c.413T>C	ENST00000461574.2:p.Leu138Pro
	ENST00000468300.5:c.413T>C	ENST00000468300.5:p.Leu138Pro
	ENST00000470026.6:c.413T>C	ENST00000470026.6:p.Leu138Pro
	ENST00000471181.7:c.413T>C	ENST00000471181.7:p.Leu138Pro
	ENST00000473961.6:c.413T>C	ENST00000473961.6:p.Leu138Pro
	ENST00000476777.6:c.413T>C	ENST00000476777.6:p.Leu138Pro
	ENST00000477152.6:c.335T>C	ENST00000477152.6:p.Leu112Pro
	ENST00000478531.6:c.413T>C	ENST00000478531.6:p.Leu138Pro
	ENST00000484087.6:c.413T>C	ENST00000484087.6:p.Leu138Pro
	ENST00000489037.2:c.335T>C	ENST00000489037.2:p.Leu112Pro
	ENST00000491747.6:c.413T>C	ENST00000491747.6:p.Leu138Pro
	ENST00000493795.5:c.272T>C	ENST00000493795.5:p.Leu91Pro
	ENST00000493919.6:c.272T>C	ENST00000493919.6:p.Leu91Pro
	ENST00000494123.6:c.413T>C	ENST00000494123.6:p.Leu138Pro
	ENST00000497488.2:c.-218-9290T>C
	ENST00000586385.5:c.4+21032T>C
	ENST00000591534.5:c.-44+21121T>C
	ENST00000591849.5:c.-99+21121T>C
	ENST00000618469.2:c.413T>C	ENST00000618469.2:p.Leu138Pro
	ENST00000634433.2:c.413T>C	ENST00000634433.2:p.Leu138Pro
	ENST00000644379.2:c.413T>C	ENST00000644379.2:p.Leu138Pro
	ENST00000644555.2:c.272T>C	ENST00000644555.2:p.Leu91Pro
	ENST00000700182.1:c.335T>C	ENST00000700182.1:p.Leu112Pro
	ENST00000713676.1:c.413T>C	ENST00000713676.1:p.Leu138Pro

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	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
Uncertain significance	2023-03-28	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Uncertain significance	2021-11-09	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance		no assertion criteria provided	not provided	unknown	Detail
Likely benign	2023-03-10	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.480	Malignant neoplasm of breast	No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2...	BeFree	18523885	Detail
0.080	breast carcinoma	No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2...	BeFree	18523885	Detail
0.019	breast carcinoma	No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2...	BeFree	18523885	Detail
0.360	Malignant neoplasm of breast	No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2...	BeFree	18523885	Detail
0.080	breast carcinoma	No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2...	BeFree	18523885	Detail
0.090	Malignant neoplasm of breast	No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2...	BeFree	18523885	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.413T>C (p.Leu138Pro) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.413T>C (p.Leu138Pro) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.413T>C (p.Leu138Pro) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.413T>C (p.Leu138Pro) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: ...	DisGeNET	Detail
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: ...	DisGeNET	Detail
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: ...	DisGeNET	Detail
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: ...	DisGeNET	Detail
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: ...	DisGeNET	Detail
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: ...	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: rs200449040 dbSNP
Genome: hg38
Position: chr17:43,104,150-43,104,150
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8654
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): 121404
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): 8.236960890909689E-6

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