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NM_133433.4(NIPBL):c.-243A>C

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000353369.1
Variation ID:
353369
Description:
single nucleotide variant
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NM_133433.4(NIPBL):c.-243A>C

Allele ID
299524
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p13.2
Genomic location
5: 36877015 (GRCh38) GRCh38 UCSC
5: 36877117 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.36877015A>C
NC_000005.9:g.36877117A>C
NM_015384.5:c.-243A>C 5 prime UTR
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00042
Trans-Omics for Precision Medicine (TOPMed) 0.00056
1000 Genomes Project 0.00160
Links
ClinGen: CA10621721
dbSNP: rs544681871
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000320082.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NIPBL Sufficient evidence for dosage pathogenicity Little evidence for dosage pathogenicity GRCh38
GRCh37
644 721

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Cornelia de Lange Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000457259.2
Submitted: (Oct 18, 2016)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jan 11, 2020