NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met) AND Stickler syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 12, 2021
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:: RCV001375161.2

Allele description [Variation Report for NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met)]

NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.11

Genomic location:

Preferred name:

NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met)

HGVS:

NC_000012.12:g.47987079G>A
NG_008072.1:g.22424C>T
NM_001844.5:c.1364C>TMANE SELECT
NM_033150.3:c.1157C>T
NP_001835.3:p.Thr455Met
NP_149162.2:p.Thr386Met
NC_000012.11:g.48380862G>A
NM_001844.4:c.1364C>T

Protein change:

T386M

Links:

dbSNP: rs775754967

NCBI 1000 Genomes Browser:

rs775754967

Molecular consequence:

NM_001844.5:c.1364C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_033150.3:c.1157C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Stickler syndrome
Identifiers:: MONDO: MONDO:0019354; MedGen: C0265253; OMIM: PS108300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001571719	Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center	criteria provided, single submitter (ClinGen HL ACMG Specifications v1)	Likely pathogenic (Apr 12, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 26443184, 30311386

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001571719

Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center

criteria provided, single submitter

(ClinGen HL ACMG Specifications v1)

Likely pathogenic
(Apr 12, 2021)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, Touitou I.

Hum Mutat. 2016 Jan;37(1):7-15. doi: 10.1002/humu.22915. Epub 2015 Oct 21. Review.

PubMed [citation]

PMID:: 26443184

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; et al.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PubMed [citation]

PMID:: 30311386
PMCID:: PMC6188673

Details of each submission

From Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center, SCV001571719.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

PP1_Moderate, PP3_Strong, BS2_Strong

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

Last Updated: Mar 16, 2024

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