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NM_001854.4(COL11A1):c.990+8G>A AND not specified

Germline classification:
Benign (1 submission)
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:
RCV001579753.1

Allele description [Variation Report for NM_001854.4(COL11A1):c.990+8G>A]

NM_001854.4(COL11A1):c.990+8G>A

Gene:
COL11A1:collagen type XI alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p21.1
Genomic location:
Preferred name:
NM_001854.4(COL11A1):c.990+8G>A
HGVS:
  • NC_000001.11:g.103025513C>T
  • NG_008033.2:g.87984G>A
  • NM_001190709.2:c.873+8G>A
  • NM_001854.3:c.990+8G>A
  • NM_001854.4:c.990+8G>AMANE SELECT
  • NM_080629.3:c.1026+8G>A
  • NM_080630.4:c.897+703G>A
  • NC_000001.10:g.103491069C>T
Links:
dbSNP: rs756299328
NCBI 1000 Genomes Browser:
rs756299328
Molecular consequence:
  • NM_001190709.2:c.873+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001854.4:c.990+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080629.3:c.1026+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080630.4:c.897+703G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001808395Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus
no assertion criteria provided
Benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001808395.1

#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: Jul 23, 2024