ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Uncertain significance
- Review status:
- no assertion criteria provided
- Submissions:
- 1
- First in ClinVar:
- Jan 28, 2015
- Most recent Submission:
- May 20, 2023
- Last evaluated:
- Dec 1, 2002
- Accession:
- VCV000007503.5
- Variation ID:
- 7503
- Description:
- 2.5kb deletion
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NG_012130.1:g.(?_5165)_(7623_?)del
- Allele ID
- 22542
- Variant type
- Deletion
- Variant length
- 2,459 bp
- Cytogenetic location
- 8q11.21
- Genomic location
- 8: 48918807-48921265 (GRCh38) GRCh38 UCSC
- 8: 49831366-49833824 (GRCh37) GRCh37 UCSC
- HGVS
-
Nucleotide Protein Molecular
consequenceNC_000008.11:g.(?_48918807)_(48921265_?)del NC_000008.10:g.(?_49831366)_(49833824_?)del NG_012130.1:g.(?_5165)_(7623_?)del LRG_1359:g.(?_5165)_(7623_?)del - Protein change
- -
- Other names
- SNAI2, DEL
- DEL
- Canonical SPDI
- -
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- OMIM: 602150.0001
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Uncertain significance | 1 | no assertion criteria provided | Dec 1, 2002 | RCV000007932.8 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Uncertain significance
(Dec 01, 2002)
|
no assertion criteria provided
Method: literature only
|
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000028137.6
First in ClinVar: Apr 04, 2013 Last updated: May 20, 2023 |
Comment on evidence:
This variant, formerly titled WAARDENBURG SYNDROME, TYPE 2D, based on the report of Sanchez-Martin et al. (2002), has been reclassified based on the report of … (more)
This variant, formerly titled WAARDENBURG SYNDROME, TYPE 2D, based on the report of Sanchez-Martin et al. (2002), has been reclassified based on the report of Mirhadi et al. (2020). In 2 of 38 unrelated patients with Waardenburg syndrome (W2; see 193510) and no mutation in the MITF gene, Sanchez-Martin et al. (2002) detected homozygous deletions spanning the entire coding region of the SNAI2 gene. One patient (patient B), a 15-year-old girl born of nonconsanguineous, unaffected parents of Bangladeshi origin, had 4 unaffected sibs. The other patient (patient D) was a 3-year-old boy of nonconsanguineous, unaffected Dutch parents. Mirhadi et al. (2020) called into the question the findings of Sanchez-Martin et al. (2002) and suggested that the findings may have been a result of a technical artifact. They cited the unpublished observation of a child with a heterozygous 1.7-Mb 8q11.1q11.21 deletion that included the entire SNAI2 gene whose clinical phenotype did not include pigmentation anomalies, deafness, or dysmorphia that would be suggestive of either Waardenburg syndrome or piebaldism. (less)
|
Functional evidence
Help| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Does SNAI2 mutation cause human piebaldism and Waardenburg syndrome? | Mirhadi S | American journal of medical genetics. Part A | 2020 | PMID: 32975012 |
| SLUG (SNAI2) deletions in patients with Waardenburg disease. | Sánchez-Martín M | Human molecular genetics | 2002 | PMID: 12444107 |
Record last updated Sep 03, 2023