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NM_080680.3(COL11A2):c.2128C>T (p.Pro710Ser) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 20, 2019
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:
RCV001250801.2

Allele description [Variation Report for NM_080680.3(COL11A2):c.2128C>T (p.Pro710Ser)]

NM_080680.3(COL11A2):c.2128C>T (p.Pro710Ser)

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.2128C>T (p.Pro710Ser)
HGVS:
  • NC_000006.12:g.33176474G>A
  • NG_011589.1:g.20995C>T
  • NM_080679.3:c.1807C>T
  • NM_080680.3:c.2128C>TMANE SELECT
  • NM_080681.3:c.1870C>T
  • NP_542410.2:p.Pro603Ser
  • NP_542411.2:p.Pro710Ser
  • NP_542412.2:p.Pro624Ser
  • NC_000006.11:g.33144251G>A
  • NM_080680.2:c.2128C>T
Protein change:
P603S
Links:
dbSNP: rs1583334125
NCBI 1000 Genomes Browser:
rs1583334125
Molecular consequence:
  • NM_080679.3:c.1807C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080680.3:c.2128C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080681.3:c.1870C>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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001426284Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
criteria provided, single submitter

(ACGS Guidelines, 2020)		Uncertain significance
(Aug 20, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV001426284.1

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

Last Updated: Feb 4, 2024