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NG_012130.1:g.(?_5165)_(7623_?)del

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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
consequence
NC_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
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SNAI2 - - GRCh38
GRCh37
72 100

Submitted interpretations and evidence

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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
Publications:
PubMed (2)
PubMed: 1244410732975012
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)

Functional evidence

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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

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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