NM_001844.5(COL2A1):c.2369_2387del (p.Pro790fs) AND Stickler syndrome type 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 22, 2022
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:: RCV002250986.1

Allele description [Variation Report for NM_001844.5(COL2A1):c.2369_2387del (p.Pro790fs)]

NM_001844.5(COL2A1):c.2369_2387del (p.Pro790fs)

Gene:

COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q13.11

Genomic location:

Preferred name:

NM_001844.5(COL2A1):c.2369_2387del (p.Pro790fs)

HGVS:

NC_000012.12:g.47981799_47981817del
NG_008072.1:g.27687_27705del
NM_001844.5:c.2369_2387delMANE SELECT
NM_033150.3:c.2162_2180del
NP_001835.3:p.Pro790fs
NP_149162.2:p.Pro721fs
NC_000012.11:g.48375582_48375600del

Protein change:

P721fs

Links:

dbSNP: rs2136544726

NCBI 1000 Genomes Browser:

rs2136544726

Molecular consequence:

NM_001844.5:c.2369_2387del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033150.3:c.2162_2180del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Stickler syndrome type 1 (STL1)
Synonyms:: Stickler syndrome, vitreous type 1; Stickler syndrome, membranous vitreous type; Arthroophthalmopathy, hereditary progressive
Identifiers:: MONDO: MONDO:0007160; MedGen: C2020284; Orphanet: 828; OMIM: 108300

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002521288	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 22, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002521288

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 22, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Nothing to display

Details of each submission

From 3billion, SCV002521288.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

Description

The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine