NM_001854.4(COL11A1):c.1792-39ATG[9] AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Mar 29, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000079905.6

Allele description [Variation Report for NM_001854.4(COL11A1):c.1792-39ATG[9]]

NM_001854.4(COL11A1):c.1792-39ATG[9]

Gene:
COL11A1:collagen type XI alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1p21.1
Genomic location:
Preferred name:
NM_001854.4(COL11A1):c.1792-39ATG[9]
HGVS:
  • NC_000001.10:g.103471457_103471459del
  • NC_000001.11:g.103005903TCA[9]
  • NG_008033.2:g.107567ATG[9]
  • NM_001190709.2:c.1675-39ATG[9]
  • NM_001854.4:c.1792-39ATG[9]MANE SELECT
  • NM_080629.3:c.1828-39ATG[9]
  • NM_080630.4:c.1444-39ATG[9]
  • NC_000001.10:g.103471457_103471459del
  • NC_000001.10:g.103471457_103471459delCAT
  • NC_000001.10:g.103471459TCA[9]
  • NM_001854.3:c.1792-12_1792-10delATG
  • NM_080629.2:c.1828-12_1828-10delATG
Links:
dbSNP: rs71752747
NCBI 1000 Genomes Browser:
rs71752747
Molecular consequence:
  • NM_001190709.2:c.1675-39ATG[9] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001854.4:c.1792-39ATG[9] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080629.3:c.1828-39ATG[9] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080630.4:c.1444-39ATG[9] - intron variant - [Sequence Ontology: SO:0001627]
Observations:
5

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
SCV000111788EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(May 5, 2014)
germlineclinical testing

Citation Link,

SCV000308445PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Likely benigngermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000538711Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Mar 29, 2016)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown5not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000111788.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided5not providednot providednot provided

From PreventionGenetics,PreventionGenetics, SCV000308445.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000538711.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

Support Center