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NM_005012.4(ROR1):c.2728T>G (p.Tyr910Asp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 21, 2021)
Last evaluated:
Aug 23, 2019
Accession:
VCV001028328.1
Variation ID:
1028328
Description:
single nucleotide variant
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NM_005012.4(ROR1):c.2728T>G (p.Tyr910Asp)

Allele ID
1015777
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.3
Genomic location
1: 64178769 (GRCh38) GRCh38 UCSC
1: 64644452 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.64644452T>G
NC_000001.11:g.64178769T>G
NG_032801.2:g.409751T>G
NM_005012.4:c.2728T>G MANE Select NP_005003.2:p.Tyr910Asp missense
Protein change
Y910D
Other names
-
Canonical SPDI
NC_000001.11:64178768:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs760355948
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 23, 2019 RCV001329353.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ROR1 - - GRCh38
GRCh37
25 53

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Aug 23, 2019)
criteria provided, single submitter
Method: clinical testing
Hearing loss, autosomal recessive 108
Affected status: yes
Allele origin: unknown
Baylor Genetics
Accession: SCV001520775.1
Submitted: (Feb 21, 2021)
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs760355948...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jan 08, 2022