U.S. flag

An official website of the United States government

NM_001852.4(COL9A2):c.95G>A (p.Arg32Gln) AND not specified

Germline classification:
Benign (2 submissions)
Last evaluated:
Feb 4, 2015
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:
RCV000175705.8

Allele description [Variation Report for NM_001852.4(COL9A2):c.95G>A (p.Arg32Gln)]

NM_001852.4(COL9A2):c.95G>A (p.Arg32Gln)

Genes:
LOC129930261:ATAC-STARR-seq lymphoblastoid silent region 724 [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.95G>A (p.Arg32Gln)
HGVS:
  • NC_000001.11:g.40315645C>T
  • NG_008031.1:g.6623G>A
  • NM_001852.4:c.95G>AMANE SELECT
  • NP_001843.1:p.Arg32Gln
  • NC_000001.10:g.40781317C>T
  • NM_001852.3:c.95G>A
Protein change:
R32Q
Links:
dbSNP: rs200424850
NCBI 1000 Genomes Browser:
rs200424850
Molecular consequence:
  • NM_001852.4:c.95G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000227240Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Benign
(Feb 4, 2015)
germlineclinical testing

Citation Link,

SCV001925295Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000227240.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001925295.1

#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: Feb 28, 2024