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NM_004715.5(CTDP1):c.2817T>C (p.Asp939=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 23, 2021)
Last evaluated:
Jul 30, 2021
Accession:
VCV000128865.5
Variation ID:
128865
Description:
single nucleotide variant
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NM_004715.5(CTDP1):c.2817T>C (p.Asp939=)

Allele ID
134313
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q23
Genomic location
18: 79753721 (GRCh38) GRCh38 UCSC
18: 77513721 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_004715.5:c.2817T>C MANE Select NP_004706.3:p.Asp939= synonymous
NM_048368.4:c.*50T>C 3 prime UTR
NM_004715.4:c.2817T>C NP_004706.3:p.Asp939= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000018.10:79753720:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.10483 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.90214
The Genome Aggregation Database (gnomAD) 0.91308
Exome Aggregation Consortium (ExAC) 0.96657
The Genome Aggregation Database (gnomAD), exomes 0.97115
Trans-Omics for Precision Medicine (TOPMed) 0.89720
The Genome Aggregation Database (gnomAD) 0.90284
1000 Genomes Project 0.89517
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.89643
Links
ClinGen: CA152523
dbSNP: rs626169
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, single submitter - RCV000116845.6
Benign 2 criteria provided, single submitter Jul 30, 2021 RCV000609865.2
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001539560.2
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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
155 323

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000310621.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001757347.1
Submitted: (Jul 20, 2021)
Evidence details
Benign
(Jul 30, 2021)
criteria provided, single submitter
Method: clinical testing
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001876378.1
Submitted: (Sep 11, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000150919.2
Submitted: (Jun 27, 2014)
Evidence details
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)
Benign
(-)
no assertion criteria provided
Method: clinical testing
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733808.1
Submitted: (Apr 04, 2018)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001924798.1
Submitted: (Sep 23, 2021)
Evidence details

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 rs626169...

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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 Nov 27, 2021