Name: rs1480863891
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1480863891

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:61784345 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: insGTA
Variation Type: Indel Insertion and Deletion
Frequency: insGTA=0.000004 (1/251382, GnomAD_exome)
insGTA=0.000007 (1/140250, GnomAD)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: BRIP1 : Inframe Insertion
Publications: 0 citations
Genomic View: See rs on genome

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
gnomAD - Exomes	Global	Study-wide	251382	- No frequency provided	insGTA=0.000004
gnomAD - Exomes	European	Sub	135340	- No frequency provided	insGTA=0.000007
gnomAD - Exomes	Asian	Sub	48998	- No frequency provided	insGTA=0.00000
gnomAD - Exomes	American	Sub	34578	- No frequency provided	insGTA=0.00000
gnomAD - Exomes	African	Sub	16254	- No frequency provided	insGTA=0.00000
gnomAD - Exomes	Ashkenazi Jewish	Sub	10078	- No frequency provided	insGTA=0.00000
gnomAD - Exomes	Other	Sub	6134	- No frequency provided	insGTA=0.0000
gnomAD - Genomes	Global	Study-wide	140250	- No frequency provided	insGTA=0.000007
gnomAD - Genomes	European	Sub	75952	- No frequency provided	insGTA=0.00001
gnomAD - Genomes	African	Sub	42042	- No frequency provided	insGTA=0.00000
gnomAD - Genomes	American	Sub	13650	- No frequency provided	insGTA=0.00000
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	- No frequency provided	insGTA=0.0000
gnomAD - Genomes	East Asian	Sub	3132	- No frequency provided	insGTA=0.0000
gnomAD - Genomes	Other	Sub	2152	- No frequency provided	insGTA=0.0000

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 17	NC_000017.11:g.61784345_61784346insGTA
GRCh37.p13 chr 17	NC_000017.10:g.59861706_59861707insGTA
BRIP1 RefSeqGene (LRG_300)	NG_007409.2:g.84215_84216insACT

Gene: BRIP1, BRCA1 interacting helicase 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BRIP1 transcript	NM_032043.3:c.1553_1554in… NM_032043.3:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein	NP_114432.2:p.Ile519_Ser5… NP_114432.2:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X1	XM_011525332.4:c.1553_155… XM_011525332.4:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X1	XP_011523634.1:p.Ile519_S… XP_011523634.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X2	XM_011525333.4:c.1553_155… XM_011525333.4:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X1	XP_011523635.1:p.Ile519_S… XP_011523635.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X3	XM_011525334.3:c.1553_155… XM_011525334.3:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X1	XP_011523636.1:p.Ile519_S… XP_011523636.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X4	XM_047436891.1:c.1553_155… XM_047436891.1:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X2	XP_047292847.1:p.Ile519_S… XP_047292847.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X5	XM_047436892.1:c.1553_155… XM_047436892.1:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X2	XP_047292848.1:p.Ile519_S… XP_047292848.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X6	XM_011525335.4:c.1553_155… XM_011525335.4:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X3	XP_011523637.1:p.Ile519_S… XP_011523637.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X7	XM_011525336.3:c.1553_155… XM_011525336.3:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X4	XP_011523638.1:p.Ile519_S… XP_011523638.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X8	XM_047436893.1:c.1553_155… XM_047436893.1:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X4	XP_047292849.1:p.Ile519_S… XP_047292849.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X9	XM_047436894.1:c.1553_155… XM_047436894.1:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X4	XP_047292850.1:p.Ile519_S… XP_047292850.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X10	XM_011525339.4:c.1553_155… XM_011525339.4:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X5	XP_011523641.1:p.Ile519_S… XP_011523641.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X11	XM_047436895.1:c.1553_155… XM_047436895.1:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X5	XP_047292851.1:p.Ile519_S… XP_047292851.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X12	XM_011525340.4:c.1553_155… XM_011525340.4:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X6	XP_011523642.1:p.Ile519_S… XP_011523642.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X13	XM_047436896.1:c.1553_155… XM_047436896.1:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X7	XP_047292852.1:p.Ile519_S… XP_047292852.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X14	XM_047436897.1:c.1553_155… XM_047436897.1:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X7	XP_047292853.1:p.Ile519_S… XP_047292853.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X15	XM_047436899.1:c.1553_155… XM_047436899.1:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X7	XP_047292855.1:p.Ile519_S… XP_047292855.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X16	XM_047436900.1:c.1553_155… XM_047436900.1:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X8	XP_047292856.1:p.Ile519_S… XP_047292856.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X17	XM_047436901.1:c.1553_155… XM_047436901.1:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X8	XP_047292857.1:p.Ile519_S… XP_047292857.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X18	XM_047436902.1:c.1553_155… XM_047436902.1:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X9	XP_047292858.1:p.Ile519_S… XP_047292858.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X19	XM_047436903.1:c.1553_155… XM_047436903.1:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X9	XP_047292859.1:p.Ile519_S… XP_047292859.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X20	XM_047436904.1:c.1553_155… XM_047436904.1:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X9	XP_047292860.1:p.Ile519_S… XP_047292860.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion
BRIP1 transcript variant X21	XM_011525341.4:c.1553_155… XM_011525341.4:c.1553_1554insACT	[GTT] > L [GTACTT]	Coding Sequence Variant
Fanconi anemia group J protein isoform X10	XP_011523643.1:p.Ile519_S… XP_011523643.1:p.Ile519_Ser520insLeu	() > L (Leu)	Inframe Insertion

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	A=	insGTA
GRCh38.p14 chr 17	NC_000017.11:g.61784345=	NC_000017.11:g.61784345_61784346insGTA
GRCh37.p13 chr 17	NC_000017.10:g.59861706=	NC_000017.10:g.59861706_59861707insGTA
BRIP1 RefSeqGene (LRG_300)	NG_007409.2:g.84215=	NG_007409.2:g.84215_84216insACT
BRIP1 transcript	NM_032043.3:c.1553=	NM_032043.3:c.1553_1554insACT
BRIP1 transcript	NM_032043.2:c.1553=	NM_032043.2:c.1553_1554insACT
BRIP1 transcript variant X1	XM_011525332.4:c.1553=	XM_011525332.4:c.1553_1554insACT
BRIP1 transcript variant X1	XM_011525332.3:c.1553=	XM_011525332.3:c.1553_1554insACT
BRIP1 transcript variant X1	XM_011525332.2:c.1553=	XM_011525332.2:c.1553_1554insACT
BRIP1 transcript variant X1	XM_011525332.1:c.1553=	XM_011525332.1:c.1553_1554insACT
BRIP1 transcript variant X2	XM_011525333.4:c.1553=	XM_011525333.4:c.1553_1554insACT
BRIP1 transcript variant X2	XM_011525333.3:c.1553=	XM_011525333.3:c.1553_1554insACT
BRIP1 transcript variant X2	XM_011525333.2:c.1553=	XM_011525333.2:c.1553_1554insACT
BRIP1 transcript variant X2	XM_011525333.1:c.1553=	XM_011525333.1:c.1553_1554insACT
BRIP1 transcript variant X6	XM_011525335.4:c.1553=	XM_011525335.4:c.1553_1554insACT
BRIP1 transcript variant X4	XM_011525335.3:c.1553=	XM_011525335.3:c.1553_1554insACT
BRIP1 transcript variant X4	XM_011525335.2:c.1553=	XM_011525335.2:c.1553_1554insACT
BRIP1 transcript variant X4	XM_011525335.1:c.1553=	XM_011525335.1:c.1553_1554insACT
BRIP1 transcript variant X12	XM_011525340.4:c.1553=	XM_011525340.4:c.1553_1554insACT
BRIP1 transcript variant X11	XM_011525340.3:c.1553=	XM_011525340.3:c.1553_1554insACT
BRIP1 transcript variant X11	XM_011525340.2:c.1553=	XM_011525340.2:c.1553_1554insACT
BRIP1 transcript variant X9	XM_011525340.1:c.1553=	XM_011525340.1:c.1553_1554insACT
BRIP1 transcript variant X10	XM_011525339.4:c.1553=	XM_011525339.4:c.1553_1554insACT
BRIP1 transcript variant X10	XM_011525339.3:c.1553=	XM_011525339.3:c.1553_1554insACT
BRIP1 transcript variant X10	XM_011525339.2:c.1553=	XM_011525339.2:c.1553_1554insACT
BRIP1 transcript variant X8	XM_011525339.1:c.1553=	XM_011525339.1:c.1553_1554insACT
BRIP1 transcript variant X21	XM_011525341.4:c.1553=	XM_011525341.4:c.1553_1554insACT
BRIP1 transcript variant X12	XM_011525341.3:c.1553=	XM_011525341.3:c.1553_1554insACT
BRIP1 transcript variant X12	XM_011525341.2:c.1553=	XM_011525341.2:c.1553_1554insACT
BRIP1 transcript variant X10	XM_011525341.1:c.1553=	XM_011525341.1:c.1553_1554insACT
BRIP1 transcript variant X3	XM_011525334.3:c.1553=	XM_011525334.3:c.1553_1554insACT
BRIP1 transcript variant X3	XM_011525334.2:c.1553=	XM_011525334.2:c.1553_1554insACT
BRIP1 transcript variant X3	XM_011525334.1:c.1553=	XM_011525334.1:c.1553_1554insACT
BRIP1 transcript variant X7	XM_011525336.3:c.1553=	XM_011525336.3:c.1553_1554insACT
BRIP1 transcript variant X5	XM_011525336.2:c.1553=	XM_011525336.2:c.1553_1554insACT
BRIP1 transcript variant X5	XM_011525336.1:c.1553=	XM_011525336.1:c.1553_1554insACT
BRIP1 transcript variant X5	XM_047436892.1:c.1553=	XM_047436892.1:c.1553_1554insACT
BRIP1 transcript variant X9	XM_047436894.1:c.1553=	XM_047436894.1:c.1553_1554insACT
BRIP1 transcript variant X4	XM_047436891.1:c.1553=	XM_047436891.1:c.1553_1554insACT
BRIP1 transcript variant X8	XM_047436893.1:c.1553=	XM_047436893.1:c.1553_1554insACT
BRIP1 transcript variant X15	XM_047436899.1:c.1553=	XM_047436899.1:c.1553_1554insACT
BRIP1 transcript variant X20	XM_047436904.1:c.1553=	XM_047436904.1:c.1553_1554insACT
BRIP1 transcript variant X16	XM_047436900.1:c.1553=	XM_047436900.1:c.1553_1554insACT
BRIP1 transcript variant X17	XM_047436901.1:c.1553=	XM_047436901.1:c.1553_1554insACT
BRIP1 transcript variant X11	XM_047436895.1:c.1553=	XM_047436895.1:c.1553_1554insACT
BRIP1 transcript variant X13	XM_047436896.1:c.1553=	XM_047436896.1:c.1553_1554insACT
BRIP1 transcript variant X14	XM_047436897.1:c.1553=	XM_047436897.1:c.1553_1554insACT
BRIP1 transcript variant X18	XM_047436902.1:c.1553=	XM_047436902.1:c.1553_1554insACT
BRIP1 transcript variant X19	XM_047436903.1:c.1553=	XM_047436903.1:c.1553_1554insACT
Fanconi anemia group J protein	NP_114432.2:p.Val518=	NP_114432.2:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X1	XP_011523634.1:p.Val518=	XP_011523634.1:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X1	XP_011523635.1:p.Val518=	XP_011523635.1:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X3	XP_011523637.1:p.Val518=	XP_011523637.1:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X6	XP_011523642.1:p.Val518=	XP_011523642.1:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X5	XP_011523641.1:p.Val518=	XP_011523641.1:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X10	XP_011523643.1:p.Val518=	XP_011523643.1:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X1	XP_011523636.1:p.Val518=	XP_011523636.1:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X4	XP_011523638.1:p.Val518=	XP_011523638.1:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X2	XP_047292848.1:p.Val518=	XP_047292848.1:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X4	XP_047292850.1:p.Val518=	XP_047292850.1:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X2	XP_047292847.1:p.Val518=	XP_047292847.1:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X4	XP_047292849.1:p.Val518=	XP_047292849.1:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X7	XP_047292855.1:p.Val518=	XP_047292855.1:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X9	XP_047292860.1:p.Val518=	XP_047292860.1:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X8	XP_047292856.1:p.Val518=	XP_047292856.1:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X8	XP_047292857.1:p.Val518=	XP_047292857.1:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X5	XP_047292851.1:p.Val518=	XP_047292851.1:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X7	XP_047292852.1:p.Val518=	XP_047292852.1:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X7	XP_047292853.1:p.Val518=	XP_047292853.1:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X9	XP_047292858.1:p.Val518=	XP_047292858.1:p.Ile519_Ser520insLeu
Fanconi anemia group J protein isoform X9	XP_047292859.1:p.Val518=	XP_047292859.1:p.Ile519_Ser520insLeu

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

2 SubSNP, 2 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GNOMAD	ss2742902622	Nov 08, 2017 (151)
2	GNOMAD	ss4313918328	Apr 27, 2021 (155)
3	gnomAD - Genomes	NC_000017.11 - 61784345	Apr 27, 2021 (155)
4	gnomAD - Exomes	NC_000017.10 - 59861706	Jul 13, 2019 (153)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
12207908, ss2742902622	NC_000017.10:59861705::AGT	NC_000017.11:61784344:A:AGTA	(self)
511076621, ss4313918328	NC_000017.11:61784344::AGT	NC_000017.11:61784344:A:AGTA	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1480863891

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1480863891