NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) AND Wilson disease
- Germline classification:
- Benign (9 submissions)
- Last evaluated:
- Feb 5, 2024
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000029357.39
Allele description [Variation Report for NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys)]
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys)
- Gene:
- ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 13q14.3
- Genomic location:
- Preferred name:
- NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys)
- HGVS:
- NC_000013.11:g.51949672C>T
- NG_008806.1:g.66823G>A
- NM_000053.4:c.2855G>AMANE SELECT
- NM_001005918.3:c.2244+335G>A
- NM_001243182.2:c.2522G>A
- NM_001330578.2:c.2621G>A
- NM_001330579.2:c.2603G>A
- NP_000044.2:p.Arg952Lys
- NP_000044.2:p.Arg952Lys
- NP_001230111.1:p.Arg841Lys
- NP_001317507.1:p.Arg874Lys
- NP_001317508.1:p.Arg868Lys
- NC_000013.10:g.52523808C>T
- NM_000053.3:c.2855G>A
- NM_001005918.2:c.2244+335G>A
- P35670:p.Arg952Lys
This HGVS expression did not pass validation- Protein change:
- R841K
- Links:
- UniProtKB: P35670#VAR_000746; dbSNP: rs732774
- NCBI 1000 Genomes Browser:
- rs732774
- Molecular consequence:
- NM_001005918.3:c.2244+335G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_000053.4:c.2855G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001243182.2:c.2522G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001330578.2:c.2621G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001330579.2:c.2603G>A - missense variant - [Sequence Ontology: SO:0001583]
- Observations:
- 87249
Condition(s)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000052004 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | benign (Aug 18, 2011) | germline | curation, clinical testing | |
SCV000384666 | Illumina Laboratory Services, Illumina | criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) | Benign (Jan 13, 2018) | germline | clinical testing | |
SCV000602587 | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021) | Benign (Mar 8, 2022) | germline | clinical testing | |
SCV000733358 | Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus | no assertion criteria provided | Benign | germline | clinical testing | |
SCV001459717 | Natera, Inc. | no assertion criteria provided | Benign (Sep 16, 2020) | germline | clinical testing | |
SCV001720717 | Labcorp Genetics (formerly Invitae), Labcorp | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Benign (Feb 1, 2024) | germline | clinical testing | |
SCV001750135 | Genome-Nilou Lab | criteria provided, single submitter (ACMG Guidelines, 2015) | Benign (Jul 1, 2021) | germline | clinical testing | |
SCV004362480 | Color Diagnostics, LLC DBA Color Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Benign (Mar 5, 2018) | germline | clinical testing | |
SCV004845464 | All of Us Research Program, National Institutes of Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Benign (Feb 5, 2024) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | 1 | not provided | not provided | not provided | not provided | clinical testing, curation |
not provided | germline | unknown | 87248 | not provided | not provided | 108544 | not provided | clinical testing |
not provided | germline | no | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
The Wilson disease gene: spectrum of mutations and their consequences.
Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW.
Nat Genet. 1995 Feb;9(2):210-7. Erratum in: Nat Genet 1995 Apr;9(4):451.
- PMID:
- 7626145
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.
- PMID:
- 28492532
- PMCID:
- PMC5632818
Details of each submission
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052004.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | PubMed (1) |
2 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
3 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
4 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
5 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
6 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
7 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
8 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
9 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
10 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
11 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
12 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
13 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
14 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
15 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
16 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
17 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
18 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
19 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
20 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
21 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
22 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
23 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
24 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
25 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
26 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
27 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
28 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
29 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
30 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
31 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
32 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
33 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
34 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
35 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
36 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
37 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
38 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
39 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
40 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
41 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
42 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
43 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
44 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
45 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
46 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
47 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
48 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
49 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
50 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
51 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
52 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
53 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
54 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
55 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
56 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
57 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
58 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
59 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
60 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
61 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
62 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
63 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
64 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
Converted during submission to Benign.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | not provided | |
2 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 2 | |
3 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 3 | |
4 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 4 | |
5 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 5 | |
6 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 6 | |
7 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 7 | |
8 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 8 | |
9 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 9 | |
10 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 10 | |
11 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 11 | |
12 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 12 | |
13 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 13 | |
14 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 14 | |
15 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 15 | |
16 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 16 | |
17 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 17 | |
18 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 18 | |
19 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 19 | |
20 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 20 | |
21 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 21 | |
22 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 22 | |
23 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 23 | |
24 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 24 | |
25 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 25 | |
26 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 26 | |
27 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 27 | |
28 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 28 | |
29 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 29 | |
30 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 30 | |
31 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 31 | |
32 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 32 | |
33 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 33 | |
34 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 34 | |
35 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 35 | |
36 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 36 | |
37 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 37 | |
38 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 38 | |
39 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 39 | |
40 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 40 | |
41 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 41 | |
42 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 42 | |
43 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 43 | |
44 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 44 | |
45 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 45 | |
46 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 46 | |
47 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 47 | |
48 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 48 | |
49 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 49 | |
50 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 50 | |
51 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 51 | |
52 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 52 | |
53 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 53 | |
54 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 54 | |
55 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 55 | |
56 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 56 | |
57 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 57 | |
58 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 58 | |
59 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 59 | |
60 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 60 | |
61 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 61 | |
62 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 62 | |
63 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 63 | |
64 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 64 |
Co-occurrences
# | Zygosity | Alleles | Number of Observations |
---|---|---|---|
2 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
3 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.3045G>A, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
4 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2973G>A, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
5 | Homozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
6 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.3009G>A, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
7 | Homozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
8 | Homozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3620A>G, ATP7B:c.1366G>C, ATP7B:c.1216T>G, ATP7B:c.3419T>C | 1 |
9 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
10 | Homozygote | ATP7B:c.2866-13G>C, ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.1366G>C, ATP7B:c.1216T>G, ATP7B:c.3419T>C, MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A | 1 |
11 | Homozygote | ATP7B:c.3009G>A, ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.1366G>C, ATP7B:c.1216T>G, ATP7B:c.3419T>C, ATP7B:c.3700G>T, ATP7B:c.4058G>A | 1 |
12 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
13 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2973G>A, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
14 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2973G>A, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
15 | Homozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
16 | Homozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.3060+16G>T | 1 |
17 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
18 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G, ATP7B:c.3054G>A | 1 |
19 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G, ATP7B:c.4414G>A | 1 |
20 | Homozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
21 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
22 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2973G>A, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G, ATP7B:c.98T>C, ATP7B:c.2953T>C | 1 |
23 | Homozygote | ATP7B:c.2866-13G>C, ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.1366G>C, ATP7B:c.1216T>G, ATP7B:c.3419T>C | 1 |
24 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.3009G>A, ATP7B:c.2495A>G, ATP7B:c.3419T>C | 1 |
25 | Homozygote | ATP7B:c.3009G>A, ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
26 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2973G>A, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
27 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
28 | Homozygote | ATP7B:c.2866-13G>C, ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.1366G>C, ATP7B:c.1216T>G, ATP7B:c.3419T>C | 1 |
29 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
30 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
31 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G, ATP7B:c.3557-6C>T | 1 |
32 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.3045G>A, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G, ATP7B:c.2972C>T | 1 |
33 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2973G>A, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
34 | Homozygote | ATP7B:c.3045G>A, ATP7B:c.2866-13G>C, ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.1366G>C, ATP7B:c.1216T>G, ATP7B:c.3419T>C | 1 |
35 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2866-13G>C, ATP7B:c.2495A>G, ATP7B:c.3419T>C | 1 |
36 | Homozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G, ATP7B:c.3207C>A | 1 |
37 | Homozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
38 | SingleHeterozygote | ATP7B:c.4302G>A, ATP7B:c.1707+9T>C, ATP7B:c.3620A>G, ATP7B:c.3419T>C, ATP7B:c.3366A>G | 1 |
39 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
40 | Homozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
41 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
42 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C | 1 |
43 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
44 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2866-13G>C, ATP7B:c.2495A>G, ATP7B:c.3419T>C | 1 |
45 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2973G>A, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
46 | Homozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
47 | Homozygote | ATP7B:c.2866-13G>C, ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.3060+16G>T | 1 |
48 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2866-13G>C, ATP7B:c.2495A>G, ATP7B:c.3419T>C | 1 |
49 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
50 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
51 | Homozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G, ATP7B:c.1934T>G | 1 |
52 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G, ATP7B:c.3489C>T, FBN1:c.6997+17C>G, FBN1:c.1415G>A, TGFBR2:c.263+7A>G | 1 |
53 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2866-13G>C, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
54 | Homozygote | ATP7B:c.2866-13G>C, ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.1366G>C, ATP7B:c.1216T>G, ATP7B:c.3419T>C | 1 |
55 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G, ATP7B:c.3955C>T, ATP7B:c.2930C>T | 1 |
56 | Homozygote | ATP7B:c.3903+6C>T, ATP7B:c.2866-13G>C, ATP7B:c.2495A>G, ATP7B:c.3620A>G, ATP7B:c.3419T>C, ATP7B:c.2305A>G | 1 |
57 | Homozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
58 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.3009G>A, ATP7B:c.2973G>A, ATP7B:c.2495A>G, ATP7B:c.3419T>C | 1 |
59 | Homozygote | ATP7B:c.3009G>A, ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.1366G>C, ATP7B:c.1216T>G, ATP7B:c.3419T>C | 1 |
60 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.1216T>G | 1 |
61 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2866-13G>C, ATP7B:c.2495A>G, ATP7B:c.3419T>C | 1 |
62 | Homozygote | ATP7B:c.3588C>T, ATP7B:c.2866-13G>C, ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.1366G>C, ATP7B:c.1216T>G, ATP7B:c.3419T>C | 1 |
63 | SingleHeterozygote | ATP7B:c.3903+6C>T, ATP7B:c.2866-13G>C, ATP7B:c.2495A>G, ATP7B:c.1216T>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C, ATP7B:c.4301C>T | 1 |
64 | Homozygote | ATP7B:c.3903+6C>T, ATP7B:c.2495A>G, ATP7B:c.1216T>G, ATP7B:c.3419T>C, ATP7B:c.1366G>C | 1 |
From Illumina Laboratory Services, Illumina, SCV000384666.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000602587.8
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000733358.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Natera, Inc., SCV001459717.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Labcorp Genetics (formerly Invitae), Labcorp, SCV001720717.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Genome-Nilou Lab, SCV001750135.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | no | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Color Diagnostics, LLC DBA Color Health, SCV004362480.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From All of Us Research Program, National Institutes of Health, SCV004845464.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 87185 | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | 108544 | not provided | not provided | 87185 | not provided | not provided | not provided |
Last Updated: Oct 13, 2024