U.S. flag

An official website of the United States government

NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His) AND Usher syndrome type 1F

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jan 8, 2018
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:
RCV000671807.3

Allele description [Variation Report for NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His)]

NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His)

Gene:
PCDH15:protocadherin related 15 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.1
Genomic location:
Preferred name:
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His)
HGVS:
  • NC_000010.11:g.53822000C>T
  • NG_009191.3:g.1812183G>A
  • NM_001142763.2:c.5747G>A
  • NM_001142764.2:c.5732G>A
  • NM_001142765.2:c.5519G>A
  • NM_001142766.2:c.5717G>A
  • NM_001142767.2:c.5606G>A
  • NM_001142768.2:c.5666G>A
  • NM_001142769.3:c.4409+3136G>A
  • NM_001142770.3:c.4373+3136G>A
  • NM_001142771.2:c.4388+3136G>A
  • NM_001142772.2:c.4373+3136G>A
  • NM_001142773.2:c.5657G>A
  • NM_001354404.2:c.5660G>A
  • NM_001354411.2:c.4388+5393G>A
  • NM_001354420.2:c.4367+5393G>A
  • NM_001354429.2:c.4368-3987G>A
  • NM_001384140.1:c.4368-1770G>AMANE SELECT
  • NM_033056.4:c.5726G>A
  • NP_001136235.1:p.Arg1916His
  • NP_001136236.1:p.Arg1911His
  • NP_001136237.1:p.Arg1840His
  • NP_001136238.1:p.Arg1906His
  • NP_001136239.1:p.Arg1869His
  • NP_001136240.1:p.Arg1889His
  • NP_001136245.1:p.Arg1886His
  • NP_001341333.1:p.Arg1887His
  • NP_149045.3:p.Arg1909His
  • NC_000010.10:g.55581760C>T
  • NM_033056.3:c.5726G>A
  • c.5726G>A
Protein change:
R1840H
Links:
dbSNP: rs145851144
NCBI 1000 Genomes Browser:
rs145851144
Molecular consequence:
  • NM_001142769.3:c.4409+3136G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001142770.3:c.4373+3136G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001142771.2:c.4388+3136G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001142772.2:c.4373+3136G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354411.2:c.4388+5393G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354420.2:c.4367+5393G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354429.2:c.4368-3987G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001384140.1:c.4368-1770G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001142763.2:c.5747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142764.2:c.5732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142765.2:c.5519G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142766.2:c.5717G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142767.2:c.5606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142768.2:c.5666G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142773.2:c.5657G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354404.2:c.5660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033056.4:c.5726G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome type 1F (USH1F)
Synonyms:
USHER SYNDROME, TYPE IF
Identifiers:
MONDO: MONDO:0011186; MedGen: C1865885; Orphanet: 231169; Orphanet: 886; OMIM: 602083

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000796828Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Jan 8, 2018) 		unknownclinical testing

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

Citation Link,

SCV002080030Natera, Inc.
no assertion criteria provided
Uncertain significance
(Feb 3, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Citations

PubMed

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.

Sommen M, Schrauwen I, Vandeweyer G, Boeckx N, Corneveaux JJ, van den Ende J, Boudewyns A, De Leenheer E, Janssens S, Claes K, Verstreken M, Strenzke N, Predöhl F, Wuyts W, Mortier G, Bitner-Glindzicz M, Moser T, Coucke P, Huentelman MJ, Van Camp G.

Hum Mutat. 2016 Aug;37(8):812-9. doi: 10.1002/humu.22999. Epub 2016 May 6.

PubMed [citation]
PMID:
27068579

Details of each submission

From Counsyl, SCV000796828.1

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

From Natera, Inc., SCV002080030.1

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

Last Updated: Feb 7, 2023