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NM_144498.4(OSBPL2):c.572A>G (p.Asn191Ser) AND Autosomal dominant nonsyndromic hearing loss 67

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 9, 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:
RCV001353226.2

Allele description [Variation Report for NM_144498.4(OSBPL2):c.572A>G (p.Asn191Ser)]

NM_144498.4(OSBPL2):c.572A>G (p.Asn191Ser)

Gene:
OSBPL2:oxysterol binding protein like 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_144498.4(OSBPL2):c.572A>G (p.Asn191Ser)
HGVS:
  • NC_000020.11:g.62279237A>G
  • NG_042164.1:g.45753A>G
  • NM_001278649.3:c.296A>G
  • NM_001363878.2:c.296A>G
  • NM_014835.5:c.536A>G
  • NM_144498.4:c.572A>GMANE SELECT
  • NP_001265578.1:p.Asn99Ser
  • NP_001350807.1:p.Asn99Ser
  • NP_055650.1:p.Asn179Ser
  • NP_653081.1:p.Asn191Ser
  • NC_000020.10:g.60854293A>G
  • NM_144498.2:c.572A>G
Protein change:
N179S
Links:
dbSNP: rs1385022544
NCBI 1000 Genomes Browser:
rs1385022544
Molecular consequence:
  • NM_001278649.3:c.296A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363878.2:c.296A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014835.5:c.536A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144498.4:c.572A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 67
Synonyms:
Deafness, autosomal dominant 67
Identifiers:
MONDO: MONDO:0014594; MedGen: C4084712; Orphanet: 90635; OMIM: 616340

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001548369Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
criteria provided, single submitter

(ACGS Guidelines, 2020)		Uncertain significance
(Mar 9, 2021) 		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, SCV001548369.1

#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