U.S. flag

An official website of the United States government

NM_018699.4(PRDM5):c.658C>T (p.Gln220Ter) AND Brittle cornea syndrome 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 30, 2023
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:
RCV003226833.1

Allele description [Variation Report for NM_018699.4(PRDM5):c.658C>T (p.Gln220Ter)]

NM_018699.4(PRDM5):c.658C>T (p.Gln220Ter)

Gene:
PRDM5:PR/SET domain 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q27
Genomic location:
Preferred name:
NM_018699.4(PRDM5):c.658C>T (p.Gln220Ter)
HGVS:
  • NC_000004.12:g.120816917G>A
  • NG_031862.2:g.110942C>T
  • NG_031862.3:g.110809C>T
  • NM_001300823.2:c.651-343C>T
  • NM_001300824.2:c.651-343C>T
  • NM_001379104.1:c.658C>T
  • NM_001379106.1:c.651-343C>T
  • NM_018699.4:c.658C>TMANE SELECT
  • NP_001366033.1:p.Gln220Ter
  • NP_061169.2:p.Gln220Ter
  • NC_000004.11:g.121738072G>A
  • NM_018699.3:c.658C>T
Protein change:
Q220*
Molecular consequence:
  • NM_001300823.2:c.651-343C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001300824.2:c.651-343C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001379106.1:c.651-343C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001379104.1:c.658C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_018699.4:c.658C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Brittle cornea syndrome 2 (BCS2)
Identifiers:
MONDO: MONDO:0013605; MedGen: C3280011; Orphanet: 90354; OMIM: 614170

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
SCV003923131Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(Mar 30, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003923131.1

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

Description

Variant summary: PRDM5 c.658C>T (p.Gln220X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251376 control chromosomes (gnomAD). To our knowledge, no occurrence of c.658C>T in individuals affected with Brittle Cornea Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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

Last Updated: May 13, 2023