NM_004715.5(CTDP1):c.2817T>C (p.Asp939=) AND Congenital cataracts-facial dysmorphism-neuropathy syndrome

Clinical significance:Benign (Last evaluated: Jul 30, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000609865.2

Allele description [Variation Report for NM_004715.5(CTDP1):c.2817T>C (p.Asp939=)]

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

Gene:
CTDP1:CTD phosphatase subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q23
Genomic location:
Preferred name:
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=)
HGVS:
  • NC_000018.10:g.79753721T>C
  • NG_007988.1:g.78921T>C
  • NM_001202504.1:c.2460T>C
  • NM_001318511.2:c.*46T>C
  • NM_004715.4:c.2817T>C
  • NM_004715.5:c.2817T>CMANE SELECT
  • NM_048368.4:c.*50T>C
  • NP_001189433.1:p.Asp820=
  • NP_004706.3:p.Asp939=
  • NP_004706.3:p.Asp939=
  • LRG_236t1:c.2817T>C
  • LRG_236:g.78921T>C
  • LRG_236p1:p.Asp939=
  • NC_000018.9:g.77513721T>C
Links:
dbSNP: rs626169
NCBI 1000 Genomes Browser:
rs626169
Molecular consequence:
  • NM_001318511.2:c.*46T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_048368.4:c.*50T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001202504.1:c.2460T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004715.4:c.2817T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004715.5:c.2817T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Congenital cataracts-facial dysmorphism-neuropathy syndrome (CCFDN)
Synonyms:
CATARACT, CONGENITAL, WITH FACIAL DYSMORPHISM AND NEUROPATHY; Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Identifiers:
MONDO: MONDO:0011402; MedGen: C1858726; Orphanet: 48431; OMIM: 604168

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000733808Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedBenigngermlineclinical testing

SCV001876378Nilou-Genome Labcriteria provided, single submitter
Benign
(Jul 30, 2021)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000733808.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Nilou-Genome Lab, SCV001876378.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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