NM_153676.4(USH1C):c.1086-42G>A AND Deafness, autosomal recessive 18

Clinical significance:Benign (Last evaluated: Jul 10, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001538053.1

Allele description [Variation Report for NM_153676.4(USH1C):c.1086-42G>A]

NM_153676.4(USH1C):c.1086-42G>A

Gene:
USH1C:USH1 protein network component harmonin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_153676.4(USH1C):c.1086-42G>A
HGVS:
  • NC_000011.10:g.17521036C>T
  • NG_011883.1:g.28381G>A
  • NG_011883.2:g.28381G>A
  • NM_001297764.2:c.1029-42G>A
  • NM_005709.4:c.1086-42G>A
  • NM_153676.4:c.1086-42G>AMANE SELECT
  • NC_000011.9:g.17542583C>T
  • NM_005709.3:c.1086-42G>A
Links:
dbSNP: rs2108332
NCBI 1000 Genomes Browser:
rs2108332
Molecular consequence:
  • NM_001297764.2:c.1029-42G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005709.4:c.1086-42G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_153676.4:c.1086-42G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Deafness, autosomal recessive 18 (DFNB18A)
Synonyms:
Deafness, autosomal recessive 18A
Identifiers:
MONDO: MONDO:0011192; MedGen: C1865870; Orphanet: 90636; OMIM: 602092

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001755063Nilou-Genome Labcriteria provided, single submitter
Benign
(Jul 10, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Nilou-Genome Lab, SCV001755063.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 27, 2021

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