NM_153676.4(USH1C):c.2184+10T>C AND not provided

Clinical significance:Benign (Last evaluated: Aug 29, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000943311.2

Allele description [Variation Report for NM_153676.4(USH1C):c.2184+10T>C]

NM_153676.4(USH1C):c.2184+10T>C

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.2184+10T>C
HGVS:
  • NC_000011.10:g.17504637A>G
  • NG_011883.1:g.44780T>C
  • NG_011883.2:g.44780T>C
  • NM_001297764.2:c.1228-2657T>C
  • NM_005709.4:c.1285-2657T>C
  • NM_153676.4:c.2184+10T>CMANE SELECT
  • NC_000011.9:g.17526184A>G
  • NM_005709.3:c.1285-2657T>C
  • NM_153676.3:c.2184+10T>C
Links:
dbSNP: rs200889109
NCBI 1000 Genomes Browser:
rs200889109
Molecular consequence:
  • NM_001297764.2:c.1228-2657T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005709.4:c.1285-2657T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_153676.4:c.2184+10T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001089256Invitaecriteria provided, single submitter
Benign
(Aug 29, 2018)
germlineclinical testing

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

SCV001969808Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001089256.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001969808.1

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

Last Updated: Oct 6, 2021

Support Center