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NM_080680.3(COL11A2):c.1220C>T (p.Ala407Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 8, 2022
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:
RCV002488508.1

Allele description [Variation Report for NM_080680.3(COL11A2):c.1220C>T (p.Ala407Val)]

NM_080680.3(COL11A2):c.1220C>T (p.Ala407Val)

Gene:
COL11A2:collagen type XI alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.32
Genomic location:
Preferred name:
NM_080680.3(COL11A2):c.1220C>T (p.Ala407Val)
HGVS:
  • NC_000006.12:g.33180965G>A
  • NG_011589.1:g.16504C>T
  • NM_080679.3:c.899C>T
  • NM_080680.3:c.1220C>TMANE SELECT
  • NM_080681.3:c.962C>T
  • NP_542410.2:p.Ala300Val
  • NP_542411.2:p.Ala407Val
  • NP_542412.2:p.Ala321Val
  • NC_000006.11:g.33148742G>A
  • NM_080680.2:c.1220C>T
Protein change:
A300V
Links:
dbSNP: rs201981435
NCBI 1000 Genomes Browser:
rs201981435
Molecular consequence:
  • NM_080679.3:c.899C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080680.3:c.1220C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080681.3:c.962C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 53
Synonyms:
Deafness, autosomal recessive 53
Identifiers:
MONDO: MONDO:0012333; MedGen: C1864746; Orphanet: 90636; OMIM: 609706
Name:
Autosomal dominant nonsyndromic hearing loss 13
Synonyms:
Deafness, autosomal dominant 13
Identifiers:
MONDO: MONDO:0011159; MedGen: C1866095; Orphanet: 90635; OMIM: 601868
Name:
Otospondylomegaepiphyseal dysplasia, autosomal recessive (OSMEDB)
Synonyms:
CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS; Nance Sweeney chondrodysplasia; Insley-Astley syndrome
Identifiers:
MONDO: MONDO:0044206; MedGen: C5551484; Orphanet: 1427; OMIM: 215150
Name:
Otospondylomegaepiphyseal dysplasia, autosomal dominant (OSMEDA)
Synonyms:
Stickler syndrome, type 3; Stickler syndrome nonocular type; Weissenbacher-Zweymuller syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008490; MedGen: C1848488; Orphanet: 3450; OMIM: 184840
Name:
Fibrochondrogenesis 2 (FBCG2)
Identifiers:
MONDO: MONDO:0013795; MedGen: C3281128; Orphanet: 2021; OMIM: 614524

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002780651Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 8, 2022) 		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, SCV002780651.1

#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: Feb 25, 2025