Name: rs376676328
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.

rs376676328

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:108353828 (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: A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.000170 (45/264690, TOPMED)
G=0.000219 (55/251450, GnomAD_exome)
G=0.000185 (26/140230, GnomAD) (+ 5 more)
G=0.000172 (24/139250, ALFA)
G=0.000288 (35/121410, ExAC)
G=0.00001 (1/78698, PAGE_STUDY)
G=0.00023 (3/12998, GO-ESP)
G=0.0002 (1/4480, Estonian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ATM : Stop Gained
C11orf65 : Intron Variant
Publications: 2 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	155612	A=0.999820	G=0.000180
European	Sub	130484	A=0.999808	G=0.000192
African	Sub	9688	A=1.0000	G=0.0000
African Others	Sub	360	A=1.000	G=0.000
African American	Sub	9328	A=1.0000	G=0.0000
Asian	Sub	3364	A=1.0000	G=0.0000
East Asian	Sub	2708	A=1.0000	G=0.0000
Other Asian	Sub	656	A=1.000	G=0.000
Latin American 1	Sub	790	A=0.999	G=0.001
Latin American 2	Sub	946	A=1.000	G=0.000
South Asian	Sub	280	A=1.000	G=0.000
Other	Sub	10060	A=0.99980	G=0.00020

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
TopMed	Global	Study-wide	264690	A=0.999830	G=0.000170
gnomAD - Exomes	Global	Study-wide	251450	A=0.999781	G=0.000219
gnomAD - Exomes	European	Sub	135380	A=0.999645	G=0.000355
gnomAD - Exomes	Asian	Sub	49010	A=0.99998	G=0.00002
gnomAD - Exomes	American	Sub	34592	A=0.99997	G=0.00003
gnomAD - Exomes	African	Sub	16256	A=1.00000	G=0.00000
gnomAD - Exomes	Ashkenazi Jewish	Sub	10078	A=0.99960	G=0.00040
gnomAD - Exomes	Other	Sub	6134	A=0.9998	G=0.0002
gnomAD - Genomes	Global	Study-wide	140230	A=0.999815	G=0.000185
gnomAD - Genomes	European	Sub	75946	A=0.99971	G=0.00029
gnomAD - Genomes	African	Sub	42020	A=0.99998	G=0.00002
gnomAD - Genomes	American	Sub	13656	A=0.99993	G=0.00007
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.9994	G=0.0006
gnomAD - Genomes	East Asian	Sub	3132	A=1.0000	G=0.0000
gnomAD - Genomes	Other	Sub	2154	A=1.0000	G=0.0000
Allele Frequency Aggregator	Total	Global	139250	A=0.999828	G=0.000172
Allele Frequency Aggregator	European	Sub	120394	A=0.999826	G=0.000174
Allele Frequency Aggregator	Other	Sub	8626	A=0.9998	G=0.0002
Allele Frequency Aggregator	African	Sub	4850	A=1.0000	G=0.0000
Allele Frequency Aggregator	Asian	Sub	3364	A=1.0000	G=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	946	A=1.000	G=0.000
Allele Frequency Aggregator	Latin American 1	Sub	790	A=0.999	G=0.001
Allele Frequency Aggregator	South Asian	Sub	280	A=1.000	G=0.000
ExAC	Global	Study-wide	121410	A=0.999712	G=0.000288
ExAC	Europe	Sub	73354	A=0.99954	G=0.00046
ExAC	Asian	Sub	25166	A=0.99996	G=0.00004
ExAC	American	Sub	11576	A=1.00000	G=0.00000
ExAC	African	Sub	10406	A=1.00000	G=0.00000
ExAC	Other	Sub	908	A=1.000	G=0.000
The PAGE Study	Global	Study-wide	78698	A=0.99999	G=0.00001
The PAGE Study	AfricanAmerican	Sub	32516	A=0.99997	G=0.00003
The PAGE Study	Mexican	Sub	10808	A=1.00000	G=0.00000
The PAGE Study	Asian	Sub	8318	A=1.0000	G=0.0000
The PAGE Study	PuertoRican	Sub	7918	A=1.0000	G=0.0000
The PAGE Study	NativeHawaiian	Sub	4534	A=1.0000	G=0.0000
The PAGE Study	Cuban	Sub	4230	A=1.0000	G=0.0000
The PAGE Study	Dominican	Sub	3828	A=1.0000	G=0.0000
The PAGE Study	CentralAmerican	Sub	2450	A=1.0000	G=0.0000
The PAGE Study	SouthAmerican	Sub	1982	A=1.0000	G=0.0000
The PAGE Study	NativeAmerican	Sub	1260	A=1.0000	G=0.0000
The PAGE Study	SouthAsian	Sub	854	A=1.000	G=0.000
GO Exome Sequencing Project	Global	Study-wide	12998	A=0.99977	G=0.00023
GO Exome Sequencing Project	European American	Sub	8596	A=0.9997	G=0.0003
GO Exome Sequencing Project	African American	Sub	4402	A=1.0000	G=0.0000
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.9998	G=0.0002

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 11	NC_000011.10:g.108353828A>G
GRCh38.p14 chr 11	NC_000011.10:g.108353828A>T
GRCh37.p13 chr 11	NC_000011.9:g.108224555A>G
GRCh37.p13 chr 11	NC_000011.9:g.108224555A>T
C11orf65 RefSeqGene	NG_054724.1:g.121005T>C
C11orf65 RefSeqGene	NG_054724.1:g.121005T>A
ATM RefSeqGene (LRG_135)	NG_009830.1:g.135997A>G
ATM RefSeqGene (LRG_135)	NG_009830.1:g.135997A>T

Gene: C11orf65, chromosome 11 open reading frame 65 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
C11orf65 transcript variant 2	NM_001330368.2:c.640+3209… NM_001330368.2:c.640+32092T>C	N/A	Intron Variant
C11orf65 transcript variant 3	NM_001351110.2:c.695-1853… NM_001351110.2:c.695-18536T>C	N/A	Intron Variant
C11orf65 transcript variant 1	NM_152587.5:c.	N/A	Genic Downstream Transcript Variant
C11orf65 transcript variant 4	NR_147053.3:n.	N/A	Intron Variant
C11orf65 transcript variant X21	XM_011542643.3:c.732-1346… XM_011542643.3:c.732-13464T>C	N/A	Intron Variant
C11orf65 transcript variant X1	XM_047426458.1:c.732-1853… XM_047426458.1:c.732-18536T>C	N/A	Intron Variant
C11orf65 transcript variant X2	XM_047426459.1:c.732-1853… XM_047426459.1:c.732-18536T>C	N/A	Intron Variant
C11orf65 transcript variant X3	XM_047426460.1:c.732-1853… XM_047426460.1:c.732-18536T>C	N/A	Intron Variant
C11orf65 transcript variant X4	XM_047426461.1:c.732-1853… XM_047426461.1:c.732-18536T>C	N/A	Intron Variant
C11orf65 transcript variant X5	XM_047426462.1:c.678-1853… XM_047426462.1:c.678-18536T>C	N/A	Intron Variant
C11orf65 transcript variant X6	XM_047426463.1:c.639-1853… XM_047426463.1:c.639-18536T>C	N/A	Intron Variant
C11orf65 transcript variant X7	XM_047426464.1:c.904-1346… XM_047426464.1:c.904-13464T>C	N/A	Intron Variant
C11orf65 transcript variant X10	XM_047426466.1:c.787+3209… XM_047426466.1:c.787+32092T>C	N/A	Intron Variant
C11orf65 transcript variant X11	XM_047426467.1:c.585-1853… XM_047426467.1:c.585-18536T>C	N/A	Intron Variant
C11orf65 transcript variant X14	XM_047426469.1:c.788-1346… XM_047426469.1:c.788-13464T>C	N/A	Intron Variant
C11orf65 transcript variant X15	XM_047426470.1:c.788-1853… XM_047426470.1:c.788-18536T>C	N/A	Intron Variant
C11orf65 transcript variant X16	XM_047426471.1:c.732-1853… XM_047426471.1:c.732-18536T>C	N/A	Intron Variant
C11orf65 transcript variant X18	XM_047426473.1:c.694+3209… XM_047426473.1:c.694+32092T>C	N/A	Intron Variant
C11orf65 transcript variant X20	XM_047426474.1:c.732-4755… XM_047426474.1:c.732-4755T>C	N/A	Intron Variant
C11orf65 transcript variant X22	XM_047426476.1:c.641-1346… XM_047426476.1:c.641-13464T>C	N/A	Intron Variant
C11orf65 transcript variant X23	XM_047426477.1:c.639-1346… XM_047426477.1:c.639-13464T>C	N/A	Intron Variant
C11orf65 transcript variant X24	XM_047426478.1:c.585-4755… XM_047426478.1:c.585-4755T>C	N/A	Intron Variant
C11orf65 transcript variant X9	XM_005271412.4:c.	N/A	Genic Downstream Transcript Variant
C11orf65 transcript variant X13	XM_005271413.4:c.	N/A	Genic Downstream Transcript Variant
C11orf65 transcript variant X19	XM_011542641.3:c.	N/A	Genic Downstream Transcript Variant
C11orf65 transcript variant X8	XM_047426465.1:c.	N/A	Genic Downstream Transcript Variant
C11orf65 transcript variant X12	XM_047426468.1:c.	N/A	Genic Downstream Transcript Variant
C11orf65 transcript variant X17	XM_047426472.1:c.	N/A	Genic Downstream Transcript Variant

Gene: ATM, ATM serine/threonine kinase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ATM transcript variant 3	NM_001351835.2:c.	N/A	Genic Downstream Transcript Variant
ATM transcript variant 4	NM_001351836.2:c.	N/A	Genic Downstream Transcript Variant
ATM transcript variant 1	NM_001351834.2:c.8734A>G	R [AGA] > G [GGA]	Coding Sequence Variant
serine-protein kinase ATM isoform a	NP_001338763.1:p.Arg2912G… NP_001338763.1:p.Arg2912Gly	R (Arg) > G (Gly)	Missense Variant
ATM transcript variant 1	NM_001351834.2:c.8734A>T	R [AGA] > * [TGA]	Coding Sequence Variant
serine-protein kinase ATM isoform a	NP_001338763.1:p.Arg2912T… NP_001338763.1:p.Arg2912Ter	R (Arg) > * (Ter)	Stop Gained
ATM transcript variant 2	NM_000051.4:c.8734A>G	R [AGA] > G [GGA]	Coding Sequence Variant
serine-protein kinase ATM isoform a	NP_000042.3:p.Arg2912Gly	R (Arg) > G (Gly)	Missense Variant
ATM transcript variant 2	NM_000051.4:c.8734A>T	R [AGA] > * [TGA]	Coding Sequence Variant
serine-protein kinase ATM isoform a	NP_000042.3:p.Arg2912Ter	R (Arg) > * (Ter)	Stop Gained
ATM transcript variant X11	XM_011542843.3:c.	N/A	Genic Downstream Transcript Variant
ATM transcript variant X14	XM_047426981.1:c.	N/A	Genic Downstream Transcript Variant
ATM transcript variant X1	XM_006718843.5:c.8734A>G	R [AGA] > G [GGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_006718906.1:p.Arg2912G… XP_006718906.1:p.Arg2912Gly	R (Arg) > G (Gly)	Missense Variant
ATM transcript variant X1	XM_006718843.5:c.8734A>T	R [AGA] > * [TGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_006718906.1:p.Arg2912T… XP_006718906.1:p.Arg2912Ter	R (Arg) > * (Ter)	Stop Gained
ATM transcript variant X2	XM_047426975.1:c.8734A>G	R [AGA] > G [GGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_047282931.1:p.Arg2912G… XP_047282931.1:p.Arg2912Gly	R (Arg) > G (Gly)	Missense Variant
ATM transcript variant X2	XM_047426975.1:c.8734A>T	R [AGA] > * [TGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_047282931.1:p.Arg2912T… XP_047282931.1:p.Arg2912Ter	R (Arg) > * (Ter)	Stop Gained
ATM transcript variant X3	XM_005271562.6:c.8734A>G	R [AGA] > G [GGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_005271619.2:p.Arg2912G… XP_005271619.2:p.Arg2912Gly	R (Arg) > G (Gly)	Missense Variant
ATM transcript variant X3	XM_005271562.6:c.8734A>T	R [AGA] > * [TGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_005271619.2:p.Arg2912T… XP_005271619.2:p.Arg2912Ter	R (Arg) > * (Ter)	Stop Gained
ATM transcript variant X4	XM_011542840.4:c.8734A>G	R [AGA] > G [GGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_011541142.1:p.Arg2912G… XP_011541142.1:p.Arg2912Gly	R (Arg) > G (Gly)	Missense Variant
ATM transcript variant X4	XM_011542840.4:c.8734A>T	R [AGA] > * [TGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_011541142.1:p.Arg2912T… XP_011541142.1:p.Arg2912Ter	R (Arg) > * (Ter)	Stop Gained
ATM transcript variant X5	XM_017017790.3:c.8734A>G	R [AGA] > G [GGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_016873279.1:p.Arg2912G… XP_016873279.1:p.Arg2912Gly	R (Arg) > G (Gly)	Missense Variant
ATM transcript variant X5	XM_017017790.3:c.8734A>T	R [AGA] > * [TGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_016873279.1:p.Arg2912T… XP_016873279.1:p.Arg2912Ter	R (Arg) > * (Ter)	Stop Gained
ATM transcript variant X6	XM_047426976.1:c.8734A>G	R [AGA] > G [GGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_047282932.1:p.Arg2912G… XP_047282932.1:p.Arg2912Gly	R (Arg) > G (Gly)	Missense Variant
ATM transcript variant X6	XM_047426976.1:c.8734A>T	R [AGA] > * [TGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X1	XP_047282932.1:p.Arg2912T… XP_047282932.1:p.Arg2912Ter	R (Arg) > * (Ter)	Stop Gained
ATM transcript variant X7	XM_011542842.4:c.8569A>G	R [AGA] > G [GGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X2	XP_011541144.1:p.Arg2857G… XP_011541144.1:p.Arg2857Gly	R (Arg) > G (Gly)	Missense Variant
ATM transcript variant X7	XM_011542842.4:c.8569A>T	R [AGA] > * [TGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X2	XP_011541144.1:p.Arg2857T… XP_011541144.1:p.Arg2857Ter	R (Arg) > * (Ter)	Stop Gained
ATM transcript variant X8	XM_047426977.1:c.8569A>G	R [AGA] > G [GGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X2	XP_047282933.1:p.Arg2857G… XP_047282933.1:p.Arg2857Gly	R (Arg) > G (Gly)	Missense Variant
ATM transcript variant X8	XM_047426977.1:c.8569A>T	R [AGA] > * [TGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X2	XP_047282933.1:p.Arg2857T… XP_047282933.1:p.Arg2857Ter	R (Arg) > * (Ter)	Stop Gained
ATM transcript variant X9	XM_047426978.1:c.8569A>G	R [AGA] > G [GGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X2	XP_047282934.1:p.Arg2857G… XP_047282934.1:p.Arg2857Gly	R (Arg) > G (Gly)	Missense Variant
ATM transcript variant X9	XM_047426978.1:c.8569A>T	R [AGA] > * [TGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X2	XP_047282934.1:p.Arg2857T… XP_047282934.1:p.Arg2857Ter	R (Arg) > * (Ter)	Stop Gained
ATM transcript variant X10	XM_047426979.1:c.8569A>G	R [AGA] > G [GGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X2	XP_047282935.1:p.Arg2857G… XP_047282935.1:p.Arg2857Gly	R (Arg) > G (Gly)	Missense Variant
ATM transcript variant X10	XM_047426979.1:c.8569A>T	R [AGA] > * [TGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X2	XP_047282935.1:p.Arg2857T… XP_047282935.1:p.Arg2857Ter	R (Arg) > * (Ter)	Stop Gained
ATM transcript variant X12	XM_011542844.4:c.7690A>G	R [AGA] > G [GGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X4	XP_011541146.1:p.Arg2564G… XP_011541146.1:p.Arg2564Gly	R (Arg) > G (Gly)	Missense Variant
ATM transcript variant X12	XM_011542844.4:c.7690A>T	R [AGA] > * [TGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X4	XP_011541146.1:p.Arg2564T… XP_011541146.1:p.Arg2564Ter	R (Arg) > * (Ter)	Stop Gained
ATM transcript variant X13	XM_006718845.3:c.4690A>G	R [AGA] > G [GGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X5	XP_006718908.1:p.Arg1564G… XP_006718908.1:p.Arg1564Gly	R (Arg) > G (Gly)	Missense Variant
ATM transcript variant X13	XM_006718845.3:c.4690A>T	R [AGA] > * [TGA]	Coding Sequence Variant
serine-protein kinase ATM isoform X5	XP_006718908.1:p.Arg1564T… XP_006718908.1:p.Arg1564Ter	R (Arg) > * (Ter)	Stop Gained

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.

Allele: G (allele ID: 137380 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000120167.12	not specified	Uncertain-Significance
RCV000122892.16	Ataxia-telangiectasia syndrome	Uncertain-Significance
RCV000131723.16	Hereditary cancer-predisposing syndrome	Uncertain-Significance
RCV000515325.2	Ataxia-telangiectasia syndrome,Familial cancer of breast	Uncertain-Significance
RCV000656766.8	not provided	Uncertain-Significance
RCV001196874.4	Familial cancer of breast	Uncertain-Significance
RCV001355184.2	Malignant tumor of breast	Likely-Benign

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=	G	T
GRCh38.p14 chr 11	NC_000011.10:g.108353828=	NC_000011.10:g.108353828A>G	NC_000011.10:g.108353828A>T
GRCh37.p13 chr 11	NC_000011.9:g.108224555=	NC_000011.9:g.108224555A>G	NC_000011.9:g.108224555A>T
C11orf65 RefSeqGene	NG_054724.1:g.121005=	NG_054724.1:g.121005T>C	NG_054724.1:g.121005T>A
ATM RefSeqGene (LRG_135)	NG_009830.1:g.135997=	NG_009830.1:g.135997A>G	NG_009830.1:g.135997A>T
ATM transcript variant 2	NM_000051.4:c.8734=	NM_000051.4:c.8734A>G	NM_000051.4:c.8734A>T
ATM transcript variant 2	NM_000051.3:c.8734=	NM_000051.3:c.8734A>G	NM_000051.3:c.8734A>T
ATM transcript variant 1	NM_001351834.2:c.8734=	NM_001351834.2:c.8734A>G	NM_001351834.2:c.8734A>T
ATM transcript variant 1	NM_001351834.1:c.8734=	NM_001351834.1:c.8734A>G	NM_001351834.1:c.8734A>T
ATM transcript variant X3	XM_005271562.6:c.8734=	XM_005271562.6:c.8734A>G	XM_005271562.6:c.8734A>T
ATM transcript variant X4	XM_005271562.5:c.8734=	XM_005271562.5:c.8734A>G	XM_005271562.5:c.8734A>T
ATM transcript variant X5	XM_005271562.4:c.8734=	XM_005271562.4:c.8734A>G	XM_005271562.4:c.8734A>T
ATM transcript variant X4	XM_005271562.3:c.8734=	XM_005271562.3:c.8734A>G	XM_005271562.3:c.8734A>T
ATM transcript variant X2	XM_005271562.2:c.8734=	XM_005271562.2:c.8734A>G	XM_005271562.2:c.8734A>T
ATM transcript variant X2	XM_005271562.1:c.8734=	XM_005271562.1:c.8734A>G	XM_005271562.1:c.8734A>T
ATM transcript variant X1	XM_006718843.5:c.8734=	XM_006718843.5:c.8734A>G	XM_006718843.5:c.8734A>T
ATM transcript variant X2	XM_006718843.4:c.8734=	XM_006718843.4:c.8734A>G	XM_006718843.4:c.8734A>T
ATM transcript variant X3	XM_006718843.3:c.8734=	XM_006718843.3:c.8734A>G	XM_006718843.3:c.8734A>T
ATM transcript variant X5	XM_006718843.2:c.8734=	XM_006718843.2:c.8734A>G	XM_006718843.2:c.8734A>T
ATM transcript variant X5	XM_006718843.1:c.8734=	XM_006718843.1:c.8734A>G	XM_006718843.1:c.8734A>T
ATM transcript variant X4	XM_011542840.4:c.8734=	XM_011542840.4:c.8734A>G	XM_011542840.4:c.8734A>T
ATM transcript variant X1	XM_011542840.3:c.8734=	XM_011542840.3:c.8734A>G	XM_011542840.3:c.8734A>T
ATM transcript variant X2	XM_011542840.2:c.8734=	XM_011542840.2:c.8734A>G	XM_011542840.2:c.8734A>T
ATM transcript variant X2	XM_011542840.1:c.8734=	XM_011542840.1:c.8734A>G	XM_011542840.1:c.8734A>T
ATM transcript variant X7	XM_011542842.4:c.8569=	XM_011542842.4:c.8569A>G	XM_011542842.4:c.8569A>T
ATM transcript variant X6	XM_011542842.3:c.8569=	XM_011542842.3:c.8569A>G	XM_011542842.3:c.8569A>T
ATM transcript variant X7	XM_011542842.2:c.8569=	XM_011542842.2:c.8569A>G	XM_011542842.2:c.8569A>T
ATM transcript variant X6	XM_011542842.1:c.8569=	XM_011542842.1:c.8569A>G	XM_011542842.1:c.8569A>T
ATM transcript variant X12	XM_011542844.4:c.7690=	XM_011542844.4:c.7690A>G	XM_011542844.4:c.7690A>T
ATM transcript variant X8	XM_011542844.3:c.7690=	XM_011542844.3:c.7690A>G	XM_011542844.3:c.7690A>T
ATM transcript variant X9	XM_011542844.2:c.7690=	XM_011542844.2:c.7690A>G	XM_011542844.2:c.7690A>T
ATM transcript variant X8	XM_011542844.1:c.7690=	XM_011542844.1:c.7690A>G	XM_011542844.1:c.7690A>T
ATM transcript variant X5	XM_017017790.3:c.8734=	XM_017017790.3:c.8734A>G	XM_017017790.3:c.8734A>T
ATM transcript variant X5	XM_017017790.2:c.8734=	XM_017017790.2:c.8734A>G	XM_017017790.2:c.8734A>T
ATM transcript variant X6	XM_017017790.1:c.8734=	XM_017017790.1:c.8734A>G	XM_017017790.1:c.8734A>T
ATM transcript variant 2	NM_138292.3:c.4690=	NM_138292.3:c.4690A>G	NM_138292.3:c.4690A>T
ATM transcript variant X13	XM_006718845.3:c.4690=	XM_006718845.3:c.4690A>G	XM_006718845.3:c.4690A>T
ATM transcript variant X12	XM_006718845.2:c.4690=	XM_006718845.2:c.4690A>G	XM_006718845.2:c.4690A>T
ATM transcript variant X13	XM_006718845.1:c.4690=	XM_006718845.1:c.4690A>G	XM_006718845.1:c.4690A>T
ATM transcript variant 2	NM_138292.2:c.4690=	NM_138292.2:c.4690A>G	NM_138292.2:c.4690A>T
ATM transcript variant X8	XM_047426977.1:c.8569=	XM_047426977.1:c.8569A>G	XM_047426977.1:c.8569A>T
ATM transcript variant X2	XM_047426975.1:c.8734=	XM_047426975.1:c.8734A>G	XM_047426975.1:c.8734A>T
ATM transcript variant X10	XM_047426979.1:c.8569=	XM_047426979.1:c.8569A>G	XM_047426979.1:c.8569A>T
ATM transcript variant X6	XM_047426976.1:c.8734=	XM_047426976.1:c.8734A>G	XM_047426976.1:c.8734A>T
ATM transcript variant X9	XM_047426978.1:c.8569=	XM_047426978.1:c.8569A>G	XM_047426978.1:c.8569A>T
ATM transcript variant 2	NM_138292.1:c.4690=	NM_138292.1:c.4690A>G	NM_138292.1:c.4690A>T
serine-protein kinase ATM isoform a	NP_000042.3:p.Arg2912=	NP_000042.3:p.Arg2912Gly	NP_000042.3:p.Arg2912Ter
serine-protein kinase ATM isoform a	NP_001338763.1:p.Arg2912=	NP_001338763.1:p.Arg2912Gly	NP_001338763.1:p.Arg2912Ter
serine-protein kinase ATM isoform X1	XP_005271619.2:p.Arg2912=	XP_005271619.2:p.Arg2912Gly	XP_005271619.2:p.Arg2912Ter
serine-protein kinase ATM isoform X1	XP_006718906.1:p.Arg2912=	XP_006718906.1:p.Arg2912Gly	XP_006718906.1:p.Arg2912Ter
serine-protein kinase ATM isoform X1	XP_011541142.1:p.Arg2912=	XP_011541142.1:p.Arg2912Gly	XP_011541142.1:p.Arg2912Ter
serine-protein kinase ATM isoform X2	XP_011541144.1:p.Arg2857=	XP_011541144.1:p.Arg2857Gly	XP_011541144.1:p.Arg2857Ter
serine-protein kinase ATM isoform X4	XP_011541146.1:p.Arg2564=	XP_011541146.1:p.Arg2564Gly	XP_011541146.1:p.Arg2564Ter
serine-protein kinase ATM isoform X1	XP_016873279.1:p.Arg2912=	XP_016873279.1:p.Arg2912Gly	XP_016873279.1:p.Arg2912Ter
serine-protein kinase ATM isoform X5	XP_006718908.1:p.Arg1564=	XP_006718908.1:p.Arg1564Gly	XP_006718908.1:p.Arg1564Ter
serine-protein kinase ATM isoform X2	XP_047282933.1:p.Arg2857=	XP_047282933.1:p.Arg2857Gly	XP_047282933.1:p.Arg2857Ter
serine-protein kinase ATM isoform X1	XP_047282931.1:p.Arg2912=	XP_047282931.1:p.Arg2912Gly	XP_047282931.1:p.Arg2912Ter
serine-protein kinase ATM isoform X2	XP_047282935.1:p.Arg2857=	XP_047282935.1:p.Arg2857Gly	XP_047282935.1:p.Arg2857Ter
serine-protein kinase ATM isoform X1	XP_047282932.1:p.Arg2912=	XP_047282932.1:p.Arg2912Gly	XP_047282932.1:p.Arg2912Ter
serine-protein kinase ATM isoform X2	XP_047282934.1:p.Arg2857=	XP_047282934.1:p.Arg2857Gly	XP_047282934.1:p.Arg2857Ter
C11orf65 transcript variant 2	NM_001330368.2:c.640+32092=	NM_001330368.2:c.640+32092T>C	NM_001330368.2:c.640+32092T>A
C11orf65 transcript variant 3	NM_001351110.2:c.695-18536=	NM_001351110.2:c.695-18536T>C	NM_001351110.2:c.695-18536T>A
C11orf65 transcript variant X3	XM_005271414.1:c.788-18536=	XM_005271414.1:c.788-18536T>C	XM_005271414.1:c.788-18536T>A
C11orf65 transcript variant X4	XM_005271415.1:c.732-18536=	XM_005271415.1:c.732-18536T>C	XM_005271415.1:c.732-18536T>A
C11orf65 transcript variant X5	XM_005271416.1:c.640+32092=	XM_005271416.1:c.640+32092T>C	XM_005271416.1:c.640+32092T>A
C11orf65 transcript variant X21	XM_011542643.3:c.732-13464=	XM_011542643.3:c.732-13464T>C	XM_011542643.3:c.732-13464T>A
C11orf65 transcript variant X1	XM_047426458.1:c.732-18536=	XM_047426458.1:c.732-18536T>C	XM_047426458.1:c.732-18536T>A
C11orf65 transcript variant X2	XM_047426459.1:c.732-18536=	XM_047426459.1:c.732-18536T>C	XM_047426459.1:c.732-18536T>A
C11orf65 transcript variant X3	XM_047426460.1:c.732-18536=	XM_047426460.1:c.732-18536T>C	XM_047426460.1:c.732-18536T>A
C11orf65 transcript variant X4	XM_047426461.1:c.732-18536=	XM_047426461.1:c.732-18536T>C	XM_047426461.1:c.732-18536T>A
C11orf65 transcript variant X5	XM_047426462.1:c.678-18536=	XM_047426462.1:c.678-18536T>C	XM_047426462.1:c.678-18536T>A
C11orf65 transcript variant X6	XM_047426463.1:c.639-18536=	XM_047426463.1:c.639-18536T>C	XM_047426463.1:c.639-18536T>A
C11orf65 transcript variant X7	XM_047426464.1:c.904-13464=	XM_047426464.1:c.904-13464T>C	XM_047426464.1:c.904-13464T>A
C11orf65 transcript variant X10	XM_047426466.1:c.787+32092=	XM_047426466.1:c.787+32092T>C	XM_047426466.1:c.787+32092T>A
C11orf65 transcript variant X11	XM_047426467.1:c.585-18536=	XM_047426467.1:c.585-18536T>C	XM_047426467.1:c.585-18536T>A
C11orf65 transcript variant X14	XM_047426469.1:c.788-13464=	XM_047426469.1:c.788-13464T>C	XM_047426469.1:c.788-13464T>A
C11orf65 transcript variant X15	XM_047426470.1:c.788-18536=	XM_047426470.1:c.788-18536T>C	XM_047426470.1:c.788-18536T>A
C11orf65 transcript variant X16	XM_047426471.1:c.732-18536=	XM_047426471.1:c.732-18536T>C	XM_047426471.1:c.732-18536T>A
C11orf65 transcript variant X18	XM_047426473.1:c.694+32092=	XM_047426473.1:c.694+32092T>C	XM_047426473.1:c.694+32092T>A
C11orf65 transcript variant X20	XM_047426474.1:c.732-4755=	XM_047426474.1:c.732-4755T>C	XM_047426474.1:c.732-4755T>A
C11orf65 transcript variant X22	XM_047426476.1:c.641-13464=	XM_047426476.1:c.641-13464T>C	XM_047426476.1:c.641-13464T>A
C11orf65 transcript variant X23	XM_047426477.1:c.639-13464=	XM_047426477.1:c.639-13464T>C	XM_047426477.1:c.639-13464T>A
C11orf65 transcript variant X24	XM_047426478.1:c.585-4755=	XM_047426478.1:c.585-4755T>C	XM_047426478.1:c.585-4755T>A
serine-protein kinase ATM isoform X2	XP_005271619.1:p.Arg2912=	XP_005271619.1:p.Arg2912Gly	XP_005271619.1:p.Arg2912Ter

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#.

28 SubSNP, 8 Frequency, 7 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	NHLBI-ESP	ss713055577	Apr 25, 2013 (138)
2	CLINVAR	ss1457609092	Nov 23, 2014 (142)
3	EVA_DECODE	ss1598607044	Apr 01, 2015 (144)
4	EVA_EXAC	ss1690622947	Apr 01, 2015 (144)
5	ILLUMINA	ss1946322065	Feb 12, 2016 (147)
6	ILLUMINA	ss1959383819	Feb 12, 2016 (147)
7	HUMAN_LONGEVITY	ss2185531969	Dec 20, 2016 (150)
8	GNOMAD	ss2739372686	Nov 08, 2017 (151)
9	GNOMAD	ss2748735087	Nov 08, 2017 (151)
10	GNOMAD	ss2904224283	Nov 08, 2017 (151)
11	AFFY	ss2984955890	Nov 08, 2017 (151)
12	ILLUMINA	ss3021374165	Nov 08, 2017 (151)
13	ILLUMINA	ss3625609174	Oct 12, 2018 (152)
14	ILLUMINA	ss3644574920	Oct 12, 2018 (152)
15	ILLUMINA	ss3651741305	Oct 12, 2018 (152)
16	ILLUMINA	ss3653728624	Oct 12, 2018 (152)
17	EGCUT_WGS	ss3676073211	Jul 13, 2019 (153)
18	EVA_DECODE	ss3692560917	Jul 13, 2019 (153)
19	ILLUMINA	ss3725274611	Jul 13, 2019 (153)
20	ILLUMINA	ss3744090422	Jul 13, 2019 (153)
21	PAGE_CC	ss3771651161	Jul 13, 2019 (153)
22	EVA	ss3824669300	Apr 26, 2020 (154)
23	TOPMED	ss4899241982	Apr 27, 2021 (155)
24	EVA	ss5402111261	Oct 16, 2022 (156)
25	EVA	ss5837202205	Oct 16, 2022 (156)
26	EVA	ss5847647235	Oct 16, 2022 (156)
27	EVA	ss5936077030	Oct 16, 2022 (156)
28	EVA	ss5943359683	Oct 16, 2022 (156)
29	Genetic variation in the Estonian population	NC_000011.9 - 108224555	Oct 12, 2018 (152)
30	ExAC	NC_000011.9 - 108224555	Oct 12, 2018 (152)
31	gnomAD - Genomes	NC_000011.10 - 108353828	Apr 27, 2021 (155)
32	gnomAD - Exomes	NC_000011.9 - 108224555	Jul 13, 2019 (153)
33	GO Exome Sequencing Project	NC_000011.9 - 108224555	Oct 12, 2018 (152)
34	The PAGE Study	NC_000011.10 - 108353828	Jul 13, 2019 (153)
35	TopMed	NC_000011.10 - 108353828	Apr 27, 2021 (155)
36	ALFA	NC_000011.10 - 108353828	Apr 27, 2021 (155)
37	ClinVar	RCV000120167.12	Oct 16, 2022 (156)
38	ClinVar	RCV000122892.16	Oct 16, 2022 (156)
39	ClinVar	RCV000131723.16	Oct 16, 2022 (156)
40	ClinVar	RCV000515325.2	Oct 16, 2022 (156)
41	ClinVar	RCV000656766.8	Oct 16, 2022 (156)
42	ClinVar	RCV001196874.4	Oct 16, 2022 (156)
43	ClinVar	RCV001355184.2	Oct 16, 2022 (156)

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
ss1598607044	NC_000011.8:107729764:A:G	NC_000011.10:108353827:A:G	(self)
21811459, 898084, 8590776, 1126839, ss713055577, ss1690622947, ss1946322065, ss1959383819, ss2739372686, ss2748735087, ss2904224283, ss2984955890, ss3021374165, ss3625609174, ss3644574920, ss3651741305, ss3653728624, ss3676073211, ss3744090422, ss3824669300, ss5402111261, ss5837202205, ss5847647235, ss5943359683	NC_000011.9:108224554:A:G	NC_000011.10:108353827:A:G	(self)
RCV000120167.12, RCV000122892.16, RCV000131723.16, RCV000515325.2, RCV000656766.8, RCV001196874.4, RCV001355184.2, 391366327, 872630, 114787638, 12522081978, ss1457609092, ss2185531969, ss3692560917, ss3725274611, ss3771651161, ss4899241982	NC_000011.10:108353827:A:G	NC_000011.10:108353827:A:G	(self)
ss5936077030	NC_000011.9:108224554:A:T	NC_000011.10:108353827:A:T

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

2 citations for rs376676328

PMID	Title	Author	Year	Journal
24728327	Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.	Bodian DL et al.	2014	PloS one
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine

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
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs376676328