U.S. flag

An official website of the United States government

NM_001854.4(COL11A1):c.2340+9_2340+13del 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:
RCV001701352.2

Allele description [Variation Report for NM_001854.4(COL11A1):c.2340+9_2340+13del]

NM_001854.4(COL11A1):c.2340+9_2340+13del

Gene:
COL11A1:collagen type XI alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p21.1
Genomic location:
Preferred name:
NM_001854.4(COL11A1):c.2340+9_2340+13del
HGVS:
  • NC_000001.11:g.102995851_102995855del
  • NC_000001.11:g.102995855_102995859del
  • NG_008033.2:g.117642_117646del
  • NM_001190709.2:c.2223+9_2223+13del
  • NM_001854.3:c.2340+9_2340+13del5
  • NM_001854.4:c.2340+9_2340+13delMANE SELECT
  • NM_080629.3:c.2376+9_2376+13del
  • NM_080630.4:c.1992+9_1992+13del
  • NC_000001.10:g.103461407_103461411del
  • NC_000001.10:g.103461411_103461415del
  • NM_001854.3:c.2340+9_2340+13del
  • NM_001854.3:c.2340+9_2340+13delTAATT
Links:
dbSNP: rs374301870
NCBI 1000 Genomes Browser:
rs374301870
Molecular consequence:
  • NM_001190709.2:c.2223+9_2223+13del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001854.4:c.2340+9_2340+13del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080629.3:c.2376+9_2376+13del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080630.4:c.1992+9_1992+13del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001921801Clinical 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

Details of each submission

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001921801.1

#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 7, 2024