NM_001171.5(ABCC6):c.2996-1724_4209-478del AND Autosomal recessive inherited pseudoxanthoma elasticum
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 12, 2021
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- 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:
- RCV000499352.3
Allele description [Variation Report for NM_001171.5(ABCC6):c.2996-1724_4209-478del]
NM_001171.5(ABCC6):c.2996-1724_4209-478del
- Gene:
- ABCC6:ATP binding cassette subfamily C member 6 [Gene - OMIM - HGNC]
- Variant type:
- Deletion
- Cytogenetic location:
- 16p13.11
- Genomic location:
- Preferred name:
- NM_001171.5(ABCC6):c.2996-1724_4209-478del
- HGVS:
- NC_000016.10:g.16151250_16167657del
- NC_000016.9:g.16245107_16261514del
- NM_001171.5:c.2996-1724_4209-478del
This HGVS expression did not pass validation- Links:
Condition(s)
Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV000589206 | PXE International | no assertion criteria provided | Uncertain significance (Mar 12, 2021) | germline | research |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | germline | yes | 48 | not provided | not provided | 48 | not provided | research |
| . | germline | yes | 18 | not provided | not provided | 18 | not provided | research |
| American Indian or Alaska Native | germline | yes | 1 | not provided | not provided | 1 | not provided | research |
| Causasians | germline | yes | 46 | not provided | not provided | 46 | not provided | research |
| Causasians,American Indian or Alaska Native | germline | yes | 2 | not provided | not provided | 2 | not provided | research |
Details of each submission
From PXE International, SCV000589206.2
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 1 | not provided | not provided | research | not provided |
| 2 | not provided | 1 | not provided | not provided | research | not provided |
| 3 | not provided | 1 | not provided | not provided | research | not provided |
| 4 | not provided | 1 | not provided | not provided | research | not provided |
| 5 | not provided | 1 | not provided | not provided | research | not provided |
| 6 | not provided | 1 | not provided | not provided | research | not provided |
| 7 | not provided | 1 | not provided | not provided | research | not provided |
| 8 | not provided | 1 | not provided | not provided | research | not provided |
| 9 | not provided | 1 | not provided | not provided | research | not provided |
| 10 | not provided | 1 | not provided | not provided | research | not provided |
| 11 | not provided | 1 | not provided | not provided | research | not provided |
| 12 | not provided | 1 | not provided | not provided | research | not provided |
| 13 | not provided | 1 | not provided | not provided | research | not provided |
| 14 | not provided | 1 | not provided | not provided | research | not provided |
| 15 | not provided | 1 | not provided | not provided | research | not provided |
| 16 | not provided | 1 | not provided | not provided | research | not provided |
| 17 | not provided | 1 | not provided | not provided | research | not provided |
| 18 | not provided | 1 | not provided | not provided | research | not provided |
| 19 | not provided | 1 | not provided | not provided | research | not provided |
| 20 | not provided | 1 | not provided | not provided | research | not provided |
| 21 | not provided | 1 | not provided | not provided | research | not provided |
| 22 | not provided | 1 | not provided | not provided | research | not provided |
| 23 | not provided | 1 | not provided | not provided | research | not provided |
| 24 | not provided | 1 | not provided | not provided | research | not provided |
| 25 | not provided | 1 | not provided | not provided | research | not provided |
| 26 | not provided | 1 | not provided | not provided | research | not provided |
| 27 | not provided | 1 | not provided | not provided | research | not provided |
| 28 | not provided | 1 | not provided | not provided | research | not provided |
| 29 | not provided | 1 | not provided | not provided | research | not provided |
| 30 | not provided | 1 | not provided | not provided | research | not provided |
| 31 | not provided | 1 | not provided | not provided | research | not provided |
| 32 | not provided | 1 | not provided | not provided | research | not provided |
| 33 | not provided | 1 | not provided | not provided | research | not provided |
| 34 | not provided | 1 | not provided | not provided | research | not provided |
| 35 | not provided | 1 | not provided | not provided | research | not provided |
| 36 | not provided | 1 | not provided | not provided | research | not provided |
| 37 | not provided | 1 | not provided | not provided | research | not provided |
| 38 | not provided | 1 | not provided | not provided | research | not provided |
| 39 | not provided | 1 | not provided | not provided | research | not provided |
| 40 | not provided | 1 | not provided | not provided | research | not provided |
| 41 | not provided | 1 | not provided | not provided | research | not provided |
| 42 | not provided | 1 | not provided | not provided | research | not provided |
| 43 | not provided | 1 | not provided | not provided | research | not provided |
| 44 | not provided | 1 | not provided | not provided | research | not provided |
| 45 | not provided | 1 | not provided | not provided | research | not provided |
| 46 | not provided | 1 | not provided | not provided | research | not provided |
| 47 | not provided | 1 | not provided | not provided | research | not provided |
| 48 | not provided | 1 | not provided | not provided | research | not provided |
| 49 | . | 1 | not provided | not provided | research | not provided |
| 50 | . | 1 | not provided | not provided | research | not provided |
| 51 | . | 1 | not provided | not provided | research | not provided |
| 52 | . | 1 | not provided | not provided | research | not provided |
| 53 | . | 1 | not provided | not provided | research | not provided |
| 54 | . | 1 | not provided | not provided | research | not provided |
| 55 | . | 1 | not provided | not provided | research | not provided |
| 56 | . | 1 | not provided | not provided | research | not provided |
| 57 | . | 1 | not provided | not provided | research | not provided |
| 58 | . | 1 | not provided | not provided | research | not provided |
| 59 | . | 1 | not provided | not provided | research | not provided |
| 60 | . | 1 | not provided | not provided | research | not provided |
| 61 | . | 1 | not provided | not provided | research | not provided |
| 62 | . | 1 | not provided | not provided | research | not provided |
| 63 | . | 1 | not provided | not provided | research | not provided |
| 64 | . | 1 | not provided | not provided | research | not provided |
| 65 | . | 1 | not provided | not provided | research | not provided |
| 66 | . | 1 | not provided | not provided | research | not provided |
| 67 | American Indian or Alaska Native | 1 | not provided | not provided | research | not provided |
| 68 | Causasians | 1 | not provided | not provided | research | not provided |
| 69 | Causasians | 1 | not provided | not provided | research | not provided |
| 70 | Causasians | 1 | not provided | not provided | research | not provided |
| 71 | Causasians | 1 | not provided | not provided | research | not provided |
| 72 | Causasians | 1 | not provided | not provided | research | not provided |
| 73 | Causasians | 1 | not provided | not provided | research | not provided |
| 74 | Causasians | 1 | not provided | not provided | research | not provided |
| 75 | Causasians | 1 | not provided | not provided | research | not provided |
| 76 | Causasians | 1 | not provided | not provided | research | not provided |
| 77 | Causasians | 1 | not provided | not provided | research | not provided |
| 78 | Causasians | 1 | not provided | not provided | research | not provided |
| 79 | Causasians | 1 | not provided | not provided | research | not provided |
| 80 | Causasians | 1 | not provided | not provided | research | not provided |
| 81 | Causasians | 1 | not provided | not provided | research | not provided |
| 82 | Causasians | 1 | not provided | not provided | research | not provided |
| 83 | Causasians | 1 | not provided | not provided | research | not provided |
| 84 | Causasians | 1 | not provided | not provided | research | not provided |
| 85 | Causasians | 1 | not provided | not provided | research | not provided |
| 86 | Causasians | 1 | not provided | not provided | research | not provided |
| 87 | Causasians | 1 | not provided | not provided | research | not provided |
| 88 | Causasians | 1 | not provided | not provided | research | not provided |
| 89 | Causasians | 1 | not provided | not provided | research | not provided |
| 90 | Causasians | 1 | not provided | not provided | research | not provided |
| 91 | Causasians | 1 | not provided | not provided | research | not provided |
| 92 | Causasians | 1 | not provided | not provided | research | not provided |
| 93 | Causasians | 1 | not provided | not provided | research | not provided |
| 94 | Causasians | 1 | not provided | not provided | research | not provided |
| 95 | Causasians | 1 | not provided | not provided | research | not provided |
| 96 | Causasians | 1 | not provided | not provided | research | not provided |
| 97 | Causasians | 1 | not provided | not provided | research | not provided |
| 98 | Causasians | 1 | not provided | not provided | research | not provided |
| 99 | Causasians | 1 | not provided | not provided | research | not provided |
| 100 | Causasians | 1 | not provided | not provided | research | not provided |
| 101 | Causasians | 1 | not provided | not provided | research | not provided |
| 102 | Causasians | 1 | not provided | not provided | research | not provided |
| 103 | Causasians | 1 | not provided | not provided | research | not provided |
| 104 | Causasians | 1 | not provided | not provided | research | not provided |
| 105 | Causasians | 1 | not provided | not provided | research | not provided |
| 106 | Causasians | 1 | not provided | not provided | research | not provided |
| 107 | Causasians | 1 | not provided | not provided | research | not provided |
| 108 | Causasians | 1 | not provided | not provided | research | not provided |
| 109 | Causasians | 1 | not provided | not provided | research | not provided |
| 110 | Causasians | 1 | not provided | not provided | research | not provided |
| 111 | Causasians | 1 | not provided | not provided | research | not provided |
| 112 | Causasians | 1 | not provided | not provided | research | not provided |
| 113 | Causasians | 1 | not provided | not provided | research | not provided |
| 114 | Causasians,American Indian or Alaska Native | 1 | not provided | not provided | research | not provided |
| 115 | Causasians,American Indian or Alaska Native | 1 | not provided | not provided | research | not provided |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 2 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 3 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 4 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 5 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 6 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 7 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 8 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 9 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 10 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 11 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 12 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 13 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 14 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 15 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 16 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 17 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 18 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 19 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 20 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 21 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 22 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 23 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 24 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 25 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 26 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 27 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 28 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 29 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 30 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 31 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 32 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 33 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 34 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 35 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 36 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 37 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 38 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 39 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 40 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 41 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 42 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 43 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 44 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 45 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 46 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 47 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 48 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 49 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 50 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 51 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 52 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 53 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 54 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 55 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 56 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 57 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 58 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 59 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 60 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 61 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 62 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 63 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 64 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 65 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 66 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 67 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 68 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 69 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 70 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 71 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 72 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 73 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 74 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 75 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 76 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 77 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 78 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 79 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 80 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 81 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 82 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 83 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 84 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 85 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 86 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 87 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 88 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 89 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 90 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 91 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 92 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 93 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 94 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 95 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 96 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 97 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 98 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 99 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 100 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 101 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 102 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 103 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 104 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 105 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 106 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 107 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 108 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 109 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 110 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 111 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 112 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 113 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 114 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 115 | germline | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
Last Updated: Feb 14, 2024