rs587779866

Variant names:

Your query was ambiguous. Multiple possible variants found:

Variant summary

Our verdict is Pathogenic. The variant received 10 ACMG points: 10P and 0B. PVS1_ModeratePP5_Very_Strong

The NM_000051.4(ATM):c.7630-2A>C variant causes a splice acceptor, intron change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000105 in 1,613,150 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 3/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Pathogenic (★★).

Frequency

Genomes: 𝑓 0.000013 ( 0 hom., cov: 32)

Exomes 𝑓: 0.000010 ( 0 hom. )

Consequence

ATM
NM_000051.4 splice_acceptor, intron

Scores

Splicing: ADA: 1.000

Clinical Significance

Pathogenic criteria provided, multiple submitters, no conflicts P:27O:1

Conservation

PhyloP100: 7.35

Publications

32 publications found

Variant links:

COSMIC-nc: COSV105124714

Genes affected

ATM (HGNC:795): (ATM serine/threonine kinase) The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]

ATM links:

C11orf65 (HGNC:28519): (chromosome 11 open reading frame 65) Predicted to be involved in negative regulation of mitochondrial fission and negative regulation of protein targeting to mitochondrion. Predicted to be located in cytosol and mitochondrial outer membrane. [provided by Alliance of Genome Resources, Apr 2022]

C11orf65 links:

Genome browser will be placed here

ACMG classification

Classification was made for transcript

Our verdict: Pathogenic. The variant received 10 ACMG points.

PVS1

Splicing +-2 bp (donor or acceptor) variant, product NOT destroyed by NMD, known LOF gene, truncates exone, which is 0.017337259 fraction of the gene. Cryptic splice site detected, with MaxEntScore 5.4, offset of 11, new splice context is: ttcttaccgctaatctctAGaat. Cryptic site results in frameshift change. If cryptic site found is not functional and variant results in exon loss, it results in inframe change.

PP5

Variant 11-108331877-A-C is Pathogenic according to our data. Variant chr11-108331877-A-C is described in ClinVar as Pathogenic. ClinVar VariationId is 127447.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ATM	NM_000051.4 link	c.7630-2A>C		splice_acceptor_variant, intron_variant	Intron 51 of 62	ENST00000675843.1	NP_000042.3	Q13315A0A024R3C7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ATM	ENST00000675843.1 link	c.7630-2A>C		splice_acceptor_variant, intron_variant	Intron 51 of 62		NM_000051.4	ENSP00000501606.1		Q13315

Frequencies

GnomAD3 genomes

AF:

0.0000131

AC:

AN:

152152

Hom.:

Cov.:

show subpopulations

Gnomad AFR

AF:

0.00

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.00

Gnomad ASJ

AF:

0.00

Gnomad EAS

AF:

0.00

Gnomad SAS

AF:

0.00

Gnomad FIN

AF:

0.00

Gnomad MID

AF:

0.00

Gnomad NFE

AF:

0.0000294

Gnomad OTH

AF:

0.00

GnomAD2 exomes

AF:

0.00000796

AC:

AN:

251132

AF XY:

0.00

show subpopulations

Gnomad AFR exome

AF:

0.00

Gnomad AMR exome

AF:

0.00

Gnomad ASJ exome

AF:

0.00

Gnomad EAS exome

AF:

0.00

Gnomad FIN exome

AF:

0.00

Gnomad NFE exome

AF:

0.0000176

Gnomad OTH exome

AF:

0.00

GnomAD4 exome

AF:

0.0000103

AC:

AN:

1460998

Hom.:

Cov.:

AF XY:

0.0000124

AC XY:

AN XY:

726852

show subpopulations

African (AFR)

AF:

0.00

AC:

AN:

33458

American (AMR)

AF:

0.00

AC:

AN:

44720

Ashkenazi Jewish (ASJ)

AF:

0.00

AC:

AN:

26112

East Asian (EAS)

AF:

0.00

AC:

AN:

39636

South Asian (SAS)

AF:

0.00

AC:

AN:

86236

European-Finnish (FIN)

AF:

0.00

AC:

AN:

53380

Middle Eastern (MID)

AF:

0.00

AC:

AN:

5764

European-Non Finnish (NFE)

AF:

0.0000135

AC:

AN:

1111344

Other (OTH)

AF:

0.00

AC:

AN:

60348

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.472

Heterozygous variant carriers

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Exome Het

Variant carriers

<30

30-35

35-40

40-45

45-50

50-55

55-60

60-65

65-70

70-75

75-80

>80

Age

GnomAD4 genome

AF:

0.0000131

AC:

AN:

152152

Hom.:

Cov.:

AF XY:

0.00

AC XY:

AN XY:

74328

show subpopulations

African (AFR)

AF:

0.00

AC:

AN:

41428

American (AMR)

AF:

0.00

AC:

AN:

15274

Ashkenazi Jewish (ASJ)

AF:

0.00

AC:

AN:

3470

East Asian (EAS)

AF:

0.00

AC:

AN:

5196

South Asian (SAS)

AF:

0.00

AC:

AN:

4826

European-Finnish (FIN)

AF:

0.00

AC:

AN:

10610

Middle Eastern (MID)

AF:

0.00

AC:

AN:

316

European-Non Finnish (NFE)

AF:

0.0000294

AC:

AN:

68028

Other (OTH)

AF:

0.00

AC:

AN:

2094

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.575

Heterozygous variant carriers

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Genome Het

Variant carriers

<30

30-35

35-40

40-45

45-50

50-55

55-60

60-65

65-70

70-75

75-80

>80

Age

Alfa

AF:

0.000771

Hom.:

ExAC

AF:

0.0000165

AC:

ClinVar

Significance: Pathogenic

Submissions summary: Pathogenic:27Other:1

Revision: criteria provided, multiple submitters, no conflicts

LINK: link

Submissions by phenotype

Ataxia-telangiectasia syndrome

Pathogenic:8

Dec 10, 2019

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

Variant summary: ATM c.7630-2A>C, also known as IVS53-2A>C, is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes the canonical 3' acceptor site. Three predict the variant strengthens an alternate intronic 3' acceptor site. At least one publication reports experimental evidence that this variant affects mRNA splicing reporting skipping of exon 54 (60%) and skipping of the first 11 nt of exon 54 (40%) (legacy exon numbering) (Sandoval_1999). The variant allele was found at a frequency of 8e-06 in 251132 control chromosomes. c.7630-2A>C has been reported in the literature in multiple individuals affected with Ataxia-Telangiectasia as well as in individuals undergoing multigene panel testing for hereditary cancers (example, Sandoval_1999, Telatar_1998, Susswein_2016, Tsaousis_2019). These data indicate that the variant is very likely to be associated with disease. Nine clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic for Ataxia Telangectasia and ATM associated cancers. -

Nov 11, 2020

Natera, Inc.

Significance:Pathogenic

Review Status:no assertion criteria provided

Collection Method:clinical testing

- -

Dec 04, 2015

Counsyl

Significance:Pathogenic

Review Status:no assertion criteria provided

Collection Method:clinical testing

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com. -

Jan 26, 2025

Labcorp Genetics (formerly Invitae), Labcorp

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

This sequence change affects an acceptor splice site in intron 51 of the ATM gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or altered protein product. This variant is present in population databases (rs587779866, gnomAD 0.003%). Disruption of this splice site has been observed in individual(s) with breast cancer and ataxia-telangiectasia (AT) (PMID: 9443866, 9887333, 21833744, 25374739, 26681312). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as IVS51-2A>C and IVS53-2A>C. ClinVar contains an entry for this variant (Variation ID: 127447). Studies have shown that disruption of this splice site results in skipping of exon 52 and activation of a cryptic splice site, and produces a non-functional protein and/or introduces a premature termination codon (PMID: 9887333; internal data). For these reasons, this variant has been classified as Pathogenic. -

Jul 02, 2018

Mendelics

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

- -

Sep 29, 2022

Genetics and Molecular Pathology, SA Pathology

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

- -

Baylor Genetics

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

- -

Sep 01, 2022

3billion

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.001%). Canonical splice site is predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000127447). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. -

not provided

Pathogenic:6

Jul 01, 2024

CeGaT Center for Human Genetics Tuebingen

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

ATM: PS3, PVS1:Strong, PM2, PS4:Moderate -

May 23, 2018

Genetic Services Laboratory, University of Chicago

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

The c.7630-2A>C sequence change is predicted to abolish the splice acceptor site, and affects splicing of exon 52. RNA study has demonstrated that this variant leads to exon skipping (Sandoval et. al., 1999). This variant has been reported in several patients with ataxia-telangiectasia in the homozygous state or compound heterozygous state with another pathogenic variant (Sandoval et. al., 1999; Podralska et. al., 2014). This variant has also been reported in two patients with breast cancer in the heterozygous state (Susswein et. al., 2016). The contribution of this pathogenic sequence change to this patient's AML remains uncertain. Approximately 10% of patients with ataxia telangiectasia due to biallelic ATM mutations develop cancer, mostly of the lymphoid malignancies including Hodgkin's lymphoma, non-Hodgkin's lymphoma, and several forms of leukemia (Boultwood 2001; Taylor et al., 1996). Heterozygous carriers of pathogenic variants in ATM have been associated with increased risk of breast cancer (Tavtigian et. al., 2009). Our interpretation is based on the current understanding of the genetics of ATM-related diseases. -

Jun 23, 2022

GeneDx

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

Canonical splice site variant demonstrated to cause aberrant splicing by exon skipping or use of a cryptic splice site (Sandoval et al., 1999; Laake et al., 2000); Identified in the homozygous state or with a pathogenic variant on the opposite allele in multiple unrelated patients with ataxia telangiectasia and has been described as a pathogenic founder variant in individuals of Polish descent (Telatar et al., 1998; Li and Swift, 2000; Mitui et al., 2005; Soukupova et al., 2011; Nespoli et al., 2013; Podralska et al., 2014); Observed in the heterozygous state in individuals with ATM-related cancers (Brand et al., 2018; Dudley et al., 2018; Goidescu et al., 2018; Cybulski et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); Also known as IVS53-2A>C; This variant is associated with the following publications: (PMID: 16411093, 27433846, 28843361, 26580448, 30067863, 31159747, 30772474, 31407689, 25525159, 25374739, 9443866, 25614872, 16266405, 10817650, 21833744, 10980530, 29360161, 15039971, 29785153, 29678143, 30293248, 31173646, 31285527, 34199532, 35716007, 9887333, 10330348) -

Oct 23, 2020

Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

- -

Nov 03, 2021

Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

- -

Jul 17, 2024

Quest Diagnostics Nichols Institute San Juan Capistrano

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

The ATM c.7630-2A>C variant disrupts a canonical splice-acceptor site and interferes with normal ATM mRNA splicing. This variant has been reported in the published literature in the homozygous and compound heterozygous state in individuals affected with Ataxia-Telangiectasia (PMID: 9443866 (1998), 10330348 (1999), 21833744 (2011), 25374739 (2013), 30772474 (2019)). In addition, this variant has been identified in individuals with breast cancer (PMID: 26681312 (2015), 29360161 (2018), 29785153 (2018)), lung cancer (PMID: 28843361 (2017)), and pancreatic cancer (PMID: 30067863 (2018)). A study in cell lines indicated this variant causes exon skipping, and no detectable ATM protein was observed in the homozygous case (PMID: 9887333 (1999)). The frequency of this variant in the general population, 0.000023 (3/128914 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is consistent with pathogenicity. Based on the available information, this variant is classified as pathogenic. -

Familial cancer of breast

Pathogenic:5

Dec 09, 2022

Centre for Mendelian Genomics, University Medical Centre Ljubljana

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:research

PVS1, PS3_MOD, PM3_VSTR , PM2_SUP -

Jan 10, 2024

Baylor Genetics

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

- -

Aug 01, 2022

MGZ Medical Genetics Center

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

- -

Feb 02, 2024

Myriad Genetics, Inc.

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

This variant is considered pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 9443866, 9887333, 10330348]. Functional studies indicate this variant impacts protein function [PMID: 9443866, 9887333, 10330348]. -

Nov 11, 2024

Institute of Human Genetics, University of Leipzig Medical Center

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

Criteria applied: PVS1,PM3,PM2_SUP -

Hereditary cancer-predisposing syndrome

Pathogenic:3

Jan 01, 2020

GeneKor MSA

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

This variant occurs 2 nucleotides before exon 52 of the ATM gene. This position is highly conserved in the human and other genomes and is crucial in mRNA processing. This mutation is expected to result in incorrect splicing, alteration in the reading frame and a truncated protein. This variant is present in population databases ( rs587779866, <0.01%) and the mutation database ClinVar contains an entry for this variant (Variation ID: 127447/). This particular variant has been reported in the literature in individuals affected with ataxia-telangiectasia and in breast cancer patients (PMID: 988733, PMID: 26681312). An experimental study showed that this variant results in two aberrant forms of the ATM transcript, one in which exon 52 is skipped and another in which the first 11 nucleotides of exons 52 are skipped (PMID: 9887333 ). -

Jun 24, 2024

Color Diagnostics, LLC DBA Color Health

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

This variant causes an A to C nucleotide substitution at the -2 position of intron 51 splice acceptor site of the ATM gene. This variant has been shown to cause aberrant RNA splicing and result in the absence of ATM protein (PMID: 9887333, 35716007). This variant has been reported in multiple individuals affected with breast cancer cancer (PMID: 26681312, 29360161, 33050356) and pancreatic cancer (PMID: 29360161, 30067863; Peters et al., 2017, DOI: 10.1200/JCO.2017.35.15_suppl.1501). This variant has been reported in over ten individuals affected with ataxia-telangiectasia (PMID: 9887333, 10817650, 25374739, 25614872, 30772474, 33330270, 34199532; DOI:10.1016/j.nerep.2021.100011). This variant has been identified in 4/276934 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of ATM function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. -

Aug 03, 2022

Ambry Genetics

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

The c.7630-2A>C intronic pathogenic mutation results from an A to C substitution two nucleotides upstream from coding exon 51 in the ATM gene. This alteration has been detected in conjunction with another pathogenic mutation in numerous individuals with ataxia telangiectasia and has been shown to result in aberrant splicing and decreased ATM protein levels (Sandoval N et al. Hum. Mol. Genet. 1999 Jan;8:69-79; Teraoka S et al. Am J Hum Genet. 1999 Jun;64(6):1617-31; Coutinho G et al. Am. J. Med. Genet. A. 2004 Apr;126A:33-40; Soukupova J et al. Neuromolecular Med. 2011 Sep;13:204-11; Nespoli L et al. Case Reports Immunol, 2013 Oct;2013:296827; Podralska MJ et al. Mol Genet Genomic Med. 2014 Nov;2:504-11;). RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). This mutation has also been identified in multiple individuals with breast cancer, metastatic prostate cancer, and pancreatic adenocarcinoma (Susswein LR et al. Genet. Med. 2016 Aug;18:823-32; Pritchard CC et al. N. Engl. J. Med. 2016 Aug;375:443-53; Dudley B et al. Cancer, 2018 Apr;124:1691-1700; Brand R et al. Cancer, 2018 Sep;124:3520-3527). Of note, this alteration is also designated IVS53-2A>C in published literature. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. -

Ataxia-telangiectasia syndrome;C0346153:Familial cancer of breast

Pathogenic:1Other:1

GenomeConnect - Invitae Patient Insights Network

Significance:not provided

Review Status:no classification provided

Collection Method:phenotyping only

Variant interpreted as Pathogenic and reported on 08-13-2018 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. -

Apr 12, 2024

Fulgent Genetics, Fulgent Genetics

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

- -

Breast and/or ovarian cancer

Pathogenic:1

Jun 11, 2019

CZECANCA consortium

Significance:Likely pathogenic

Review Status:no assertion criteria provided

Collection Method:clinical testing

- -

Colorectal cancer

Pathogenic:1

Jun 29, 2022

Human Genetics Bochum, Ruhr University Bochum

Significance:Pathogenic

Review Status:criteria provided, single submitter

Collection Method:clinical testing

ACMG criteria used to clasify this variant: PVS1, PM2 -

Tip-toe gait

Pathogenic:1

Oct 21, 2021

Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino

Significance:Likely pathogenic

Review Status:no assertion criteria provided

Collection Method:clinical testing

Gait disorder -

ATM-related disorder

Pathogenic:1

Jul 12, 2024

PreventionGenetics, part of Exact Sciences

Significance:Pathogenic

Review Status:no assertion criteria provided

Collection Method:clinical testing

The ATM c.7630-2A>C variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. This variant has been reported with a second ATM variant in many unrelated individuals with ataxia telangiectasia (Sandoval et al. 1999. PubMed ID: 9887333; Mitui et al. 2005. PubMed ID: 16266405; Suspitsin E et al 2019. PubMed ID: 30772474). RT-PCR studies indicate this variant disrupts normal splicing and results in two alternatively spliced products with either skipping of exon 54 or skipping of the first 11 nucleotides of exon 54 (Sandoval et al. 1999. PubMed ID: 9887333). This variant has also been reported in the heterozygous state in individuals with breast cancer (Goidescu et al. 2018. PubMed ID: 29785153; Nurmi et al 2022. PubMed ID: 36551643; Supp. Table S2 Guindalini et al. 2022. PubMed ID: 35264596), pancreatic cancer (Dudley et al 2018. PubMed ID: 29360161; Brand et al 2018. PubMed ID: 30067863), and prostate cancer (Wokołorczyk. 2020. PubMed ID: 32875559). This variant is reported in 0.0023% of alleles in individuals of European (non-Finnish) descent in gnomAD and is interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/127447). Variants that disrupt the consensus splice acceptor site in ATM are expected to be pathogenic. This variant is interpreted as pathogenic. -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_addAF

Pathogenic

0.24

BayesDel_noAF

Pathogenic

0.18

CADD

Pathogenic

(source)

DANN

Uncertain

0.99

Eigen

Pathogenic

1.1

Eigen_PC

Pathogenic

0.93

FATHMM_MKL

Pathogenic

0.98

PhyloP100

7.3

GERP RS

5.3

Mutation Taster

=0/100

disease causing (ClinVar)

(source)

Splicing

Name

Calibrated prediction

Score

Prediction

dbscSNV1_ADA

Pathogenic

1.0

dbscSNV1_RF

Pathogenic

0.93

SpliceAI score (max)

0.91

Details are displayed if max score is > 0.2

DS_AG_spliceai

0.53

Position offset: 13

DS_AL_spliceai

0.91

Position offset: 2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

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Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

Age Distribution

Age Distribution

ClinVar

Submissions by phenotype

Computational scores

Splicing

Publications

Other links and lift over