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GRCh37/hg19 12p11.21(chr12:32717818-32778686)x4

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 3, 2018)
Last evaluated:
Nov 7, 2018
Accession:
VCV000598942.1
Variation ID:
598942
Description:
copy number gain
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GRCh37/hg19 12p11.21(chr12:32717818-32778686)x4

Allele ID
590029
Variant type
copy number gain
Variant length
-
Cytogenetic location
12p11.21
Genomic location
12: 32711272-32788014 (GRCh37) GRCh37 UCSC
HGVS
-
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
probably has functional consequence
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Nov 7, 2018 RCV000735276.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FGD4 - - GRCh38
GRCh37
503 539

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 07, 2018)
no assertion criteria provided
Method: clinical testing
Charcot-Marie-Tooth disease, type 4H
(Autosomal recessive inheritance)
Allele origin: inherited
Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM
Accession: SCV000851996.1
Submitted: (Dec 03, 2018)
Evidence details
Comment:
Pathogenic variants reported in FGD4 gene, homozygote or compound heterozygote, lead to truncated or absent protein causative for a demyelinating neuropathy (Dohrn MF et al, … (more)

Functional evidence

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Functional consequence Method Result Submitter Supporting information
probably has functional consequence
  1. CNV was suspected on sequencing data analysis of read depth. An arrayCGH confirmed the homozygote duplication, inherited from both heterozygote parents.
Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM
Accession: SCV000851996.1
Submitted: (Dec 03, 2018)
Evidence details

Citations for this variant

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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 Apr 17, 2020