U.S. flag

An official website of the United States government

NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=) AND Knobloch syndrome

Germline classification:
Benign/Likely benign (3 submissions)
Last evaluated:
Jan 13, 2018
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000371942.8

Allele description [Variation Report for NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=)]

NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=)

Genes:
COL18A1:collagen type XVIII alpha 1 chain [Gene - OMIM - HGNC]
SLC19A1:solute carrier family 19 member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=)
Other names:
NM_130445.2:c.2781C>T
HGVS:
  • NC_000021.9:g.45504469C>T
  • NG_011903.1:g.104287C>T
  • NG_028278.2:g.63675G>A
  • NM_001379500.1:c.2781C>TMANE SELECT
  • NM_030582.4:c.3321C>T
  • NM_130444.3:c.4026C>T
  • NP_001366429.1:p.Pro927=
  • NP_085059.2:p.Pro1107=
  • NP_569711.2:p.Pro1342=
  • NC_000021.8:g.46924383C>T
  • NM_030582.3:c.3321C>T
  • NM_130444.2:c.4026C>T
Links:
dbSNP: rs11544970
NCBI 1000 Genomes Browser:
rs11544970
Molecular consequence:
  • NM_001379500.1:c.2781C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_030582.4:c.3321C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_130444.3:c.4026C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Knobloch syndrome (KNO)
Synonyms:
RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE; Myopia retinal detachment encephalocele
Identifiers:
MONDO: MONDO:0800166; MedGen: C1849409; Orphanet: 1571; OMIM: PS267750

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000436424Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Benign
(Jan 13, 2018) 		germlineclinical testing

Citation Link,

SCV000745077Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus
criteria provided, single submitter

(ACGS Guidelines, 2013)		Likely benign
(Sep 21, 2015) 		germlineclinical testing

Citation Link,

SCV000745792Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus
no assertion criteria provided

(ACGS Guidelines, 2013)		Benign
(Jan 23, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000436424.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000745077.1

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

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV000745792.1

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

Last Updated: Mar 10, 2024