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NM_004715.5(CTDP1):c.2418-207_2418-165dup

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Jan 11, 2020
Most recent Submission:
Jan 11, 2020
Last evaluated:
May 28, 2019
Accession:
VCV000803507.1
Variation ID:
803507
Description:
43bp duplication
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NM_004715.5(CTDP1):c.2418-207_2418-165dup

Allele ID
791884
Variant type
Duplication
Variant length
43 bp
Cytogenetic location
18q23
Genomic location
18: 79728698-79728699 (GRCh38) GRCh38 UCSC
18: 77488698-77488699 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_004715.5:c.2418-207_2418-165dup MANE Select
NM_001202504.1:c.2061-207_2061-165dup
NM_001318511.2:c.2418-207_2418-165dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000018.10:79728698:TGTTTTGCCAGTCACCCTGGCTCAGTTAGCAAATTCTGATCCAT:TGTTTTGCCAGTCACCCTGGCTCAGTTAGCAAATTCTGATCCATGTTTTGCCAGTCACCCTGGCTCAGTTAGCAAATTCTGATCCAT
Functional consequence
-
Global minor allele frequency (GMAF)
0.29173 (TGTTTTGCCAGTCACCCTGGCTCAGTTAGCAAATTCTGATCCATGTTTTGCCAGTCACCCTGGCTCAGTTAGCAAATTCTGATCCAT)

Allele frequency
-
Links
dbSNP: rs147933855
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter May 28, 2019 RCV000990115.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CTDP1 - - GRCh38
GRCh38
GRCh37 		434 614

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
 Review status
(Assertion criteria)
 Condition
(Inheritance)
 Submitter More information
Benign
(May 28, 2019)
 criteria provided, single submitter
(Mendelics Assertion Criteria 2017)
Method: clinical testing
 Congenital cataracts-facial dysmorphism-neuropathy syndrome
Affected status: unknown
Allele origin: unknown
Mendelics
Accession: SCV001140920.1
First in ClinVar: Jan 11, 2020
Last updated: Jan 11, 2020

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

Text-mined citations for rs147933855...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 15, 2022 

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