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NM_001852.4(COL9A2):c.1774G>A (p.Gly592Ser) AND Stickler syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 13, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000786021.1

Allele description [Variation Report for NM_001852.4(COL9A2):c.1774G>A (p.Gly592Ser)]

NM_001852.4(COL9A2):c.1774G>A (p.Gly592Ser)

Gene:
COL9A2:collagen type IX alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_001852.4(COL9A2):c.1774G>A (p.Gly592Ser)
HGVS:
  • NC_000001.11:g.40302639C>T
  • NG_008031.1:g.19629G>A
  • NM_001852.4:c.1774G>AMANE SELECT
  • NP_001843.1:p.Gly592Ser
  • NC_000001.10:g.40768311C>T
  • NM_001852.3:c.1774G>A
Protein change:
G592S
Links:
dbSNP: rs535212284
NCBI 1000 Genomes Browser:
rs535212284
Molecular consequence:
  • NM_001852.4:c.1774G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000924661Molecular Genetics Laboratory, Institute for Ophthalmic Research
no assertion criteria provided
Likely pathogenic
(Dec 13, 2017) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Molecular Genetics Laboratory, Institute for Ophthalmic Research, SCV000924661.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024