NC_000001.10:g.(103388956_103400026)_(104094395_?)del AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 13, 2021
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:: RCV001799525.1

Allele description [Variation Report for NC_000001.10:g.(103388956_103400026)_(104094395_?)del]

NC_000001.10:g.(103388956_103400026)_(104094395_?)del

Genes:: RNPC3:RNA binding region (RNP1, RRM) containing 3 [Gene - OMIM - HGNC]
COL11A1:collagen type XI alpha 1 chain [Gene - OMIM - HGNC]
Variant type:: Deletion
Cytogenetic location:: 1p21.1
Genomic location:: Chr1: 103388956 - 104094395 (on Assembly GRCh37)
Preferred name:: NC_000001.10:g.(103388956_103400026)_(104094395_?)del
HGVS:: NC_000001.10:g.(103388956_103400026)_(104094395_?)del
This HGVS expression did not pass validation
Links:
Observations:: 2

Condition(s)

Name:: Marshall syndrome (MRSHS)
Synonyms:: Deafness, myopia, cataract, saddle nose-Marshall type
Identifiers:: MONDO: MONDO:0007949; MedGen: C0265235; Orphanet: 560; OMIM: 154780

Name:: Stickler syndrome type 2 (STL2)
Synonyms:: STICKLER SYNDROME, TYPE II; Stickler syndrome, vitreous type 2; Stickler syndrome, beaded vitreous type; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011493; MedGen: C1858084; Orphanet: 828; OMIM: 604841

Name:: Hearing loss, autosomal dominant 37
Synonyms:: Deafness, autosomal dominant 37
Identifiers:: MONDO: MONDO:0032802; MedGen: C4760307; OMIM: 618533

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001739306	Center of Genomic medicine, Geneva, University Hospital of Geneva	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 13, 2021)	maternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001739306

Center of Genomic medicine, Geneva, University Hospital of Geneva

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 13, 2021)

maternal

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	2	not provided	not provided	not provided	not provided	clinical 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

Details of each submission

From Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV001739306.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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