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NM_025099.6(CTC1):c.2282_2283insA (p.Ser762fs) AND Cerebroretinal microangiopathy with calcifications and cysts 1

Germline classification:
Likely pathogenic (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004577211.1

Allele description [Variation Report for NM_025099.6(CTC1):c.2282_2283insA (p.Ser762fs)]

NM_025099.6(CTC1):c.2282_2283insA (p.Ser762fs)

Gene:
CTC1:CST telomere replication complex component 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_025099.6(CTC1):c.2282_2283insA (p.Ser762fs)
HGVS:
  • NC_000017.11:g.8232005_8232006insT
  • NG_032148.2:g.21090_21091insA
  • NM_001411067.1:c.2282_2283insA
  • NM_025099.6:c.2282_2283insAMANE SELECT
  • NP_001397996.1:p.Ser762fs
  • NP_079375.3:p.Ser762fs
  • LRG_1124t1:c.2282_2283insA
  • LRG_1124:g.21090_21091insA
  • LRG_1124p1:p.Ser762fs
  • NC_000017.10:g.8135323_8135324insT
  • NR_046431.2:n.2197_2198insA
Protein change:
S762fs
Molecular consequence:
  • NM_001411067.1:c.2282_2283insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_025099.6:c.2282_2283insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_046431.2:n.2197_2198insA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1)
Identifiers:
MONDO: MONDO:0024564; MedGen: C4552029; Orphanet: 313838; OMIM: 612199

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005061123Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineclinical testing

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

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Summary from all submissions

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

Citations

PubMed

Nothing to display

Details of each submission

From Neuberg Centre For Genomic Medicine, NCGM, SCV005061123.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The observed frameshift variant c.2282_2283insA(p.Ser762GlnfsTer29) in CTC1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2282_2283insA variant is absent in gnomAD Exomes. This variant causes a frameshift starting with codon Serine 762, changes this amino acid to Glutamine residue, and creates a premature Stop codon at position 29 of the new reading frame, denoted p.Ser762GlnfsTer29. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing (Polvi A, et al., 2012).For these reasons, this variant has been classified as Likely Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024