NM_005012.4(ROR1):c.2728T>G (p.Tyr910Asp) AND Hearing loss, autosomal recessive 108

Clinical significance:Uncertain significance (Last evaluated: Aug 23, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001329353.1

Allele description [Variation Report for NM_005012.4(ROR1):c.2728T>G (p.Tyr910Asp)]

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

Gene:
ROR1:receptor tyrosine kinase like orphan receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.3
Genomic location:
Preferred name:
NM_005012.4(ROR1):c.2728T>G (p.Tyr910Asp)
HGVS:
  • NC_000001.11:g.64178769T>G
  • NG_032801.2:g.409751T>G
  • NM_005012.4:c.2728T>GMANE SELECT
  • NP_005003.2:p.Tyr910Asp
  • NC_000001.10:g.64644452T>G
  • NM_005012.3:c.2728T>G
Protein change:
Y910D
Links:
dbSNP: rs760355948
NCBI 1000 Genomes Browser:
rs760355948
Molecular consequence:
  • NM_005012.4:c.2728T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hearing loss, autosomal recessive 108
Synonyms:
Deafness, autosomal recessive 108
Identifiers:
MONDO: MONDO:0033200; MedGen: C4539997; OMIM: 617654

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001520775Baylor Geneticscriteria provided, single submitter
Uncertain significance
(Aug 23, 2019)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Baylor Genetics, SCV001520775.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 8, 2022

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