U.S. flag

An official website of the United States government

NM_001854.4(COL11A1):c.549GAA[1] (p.Lys185del) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 25, 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:
RCV002482471.1

Allele description [Variation Report for NM_001854.4(COL11A1):c.549GAA[1] (p.Lys185del)]

NM_001854.4(COL11A1):c.549GAA[1] (p.Lys185del)

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.549GAA[1] (p.Lys185del)
HGVS:
  • NC_000001.11:g.103074717CTT[1]
  • NG_008033.2:g.38777GAA[1]
  • NM_001190709.2:c.549GAA[1]
  • NM_001854.4:c.549GAA[1]MANE SELECT
  • NM_080629.3:c.549GAA[1]
  • NM_080630.4:c.549GAA[1]
  • NP_001177638.1:p.Lys185del
  • NP_001845.3:p.Lys185del
  • NP_542196.2:p.Lys185del
  • NP_542197.3:p.Lys185del
  • NC_000001.10:g.103540271_103540273del
  • NC_000001.10:g.103540273CTT[1]
  • NM_001854.4:c.552_554delMANE SELECT
  • NR_134980.2:n.893GAA[1]
Protein change:
K185del
Links:
dbSNP: rs774335092
NCBI 1000 Genomes Browser:
rs774335092
Molecular consequence:
  • NM_001190709.2:c.549GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001854.4:c.549GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_080629.3:c.549GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_080630.4:c.549GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NR_134980.2:n.893GAA[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Intervertebral disc disorder (IDD)
Synonyms:
Intervertebral disc disease; Lumbar disk degenerative disorder
Identifiers:
MONDO: MONDO:0044339; MedGen: C0158252; OMIM: 603932
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:
Fibrochondrogenesis 1 (FBCG1)
Identifiers:
MONDO: MONDO:0009226; MedGen: C3278138; Orphanet: 2021; OMIM: 228520
Name:
Hearing loss, autosomal dominant 37
Synonyms:
Deafness, autosomal dominant 37
Identifiers:
MONDO: MONDO:0032802; MedGen: C4760307; OMIM: 618533

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002790281Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 25, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot 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

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002790281.1

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

Last Updated: Mar 5, 2024