NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) AND Usher syndrome type 1F

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000768426.2

Allele description [Variation Report for NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)]

NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)

Gene:
PCDH15:protocadherin related 15 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
10q21.1
Genomic location:
Preferred name:
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)
HGVS:
  • NC_000010.11:g.53827437_53827438insGGCGGC
  • NC_000010.11:g.53827440CGG[7]
  • NG_009191.3:g.1806731GCC[7]
  • NM_001142763.2:c.4323GCC[7]
  • NM_001142764.2:c.4308GCC[7]
  • NM_001142765.2:c.4095GCC[7]
  • NM_001142766.2:c.4299GCC[7]
  • NM_001142767.2:c.4188GCC[7]
  • NM_001142768.2:c.4242GCC[7]
  • NM_001142769.3:c.4344GCC[7]
  • NM_001142770.3:c.4308GCC[7]
  • NM_001142771.2:c.4323GCC[7]
  • NM_001142772.2:c.4308GCC[7]
  • NM_001142773.2:c.4233GCC[7]
  • NM_001354404.2:c.4242GCC[7]
  • NM_001354411.2:c.4329GCC[7]
  • NM_001354420.2:c.4308GCC[7]
  • NM_001354429.2:c.4308GCC[7]
  • NM_001384140.1:c.4308GCC[7]MANE SELECT
  • NM_033056.4:c.4308GCC[7]
  • NP_001136235.1:p.Pro1447_Pro1448dup
  • NP_001136236.1:p.Pro1442_Pro1443dup
  • NP_001136237.1:p.Pro1371_Pro1372dup
  • NP_001136238.1:p.Pro1439_Pro1440dup
  • NP_001136239.1:p.Pro1402_Pro1403dup
  • NP_001136240.1:p.Pro1420_Pro1421dup
  • NP_001136241.1:p.Pro1454_Pro1455dup
  • NP_001136242.1:p.Pro1442_Pro1443dup
  • NP_001136243.1:p.Pro1447_Pro1448dup
  • NP_001136244.1:p.Pro1442_Pro1443dup
  • NP_001136245.1:p.Pro1417_Pro1418dup
  • NP_001341333.1:p.Pro1420_Pro1421dup
  • NP_001341340.1:p.Pro1449_Pro1450dup
  • NP_001341349.1:p.Pro1442_Pro1443dup
  • NP_001341358.1:p.Pro1442_Pro1443dup
  • NP_001371069.1:p.Pro1442_Pro1443dup
  • NP_149045.3:p.Pro1442_Pro1443dup
  • NC_000010.10:g.55587197_55587198insGGCGGC
  • NC_000010.10:g.55587200CGG[7]
  • NM_033056.3:c.4317_4322dup
Links:
dbSNP: rs559130985
NCBI 1000 Genomes Browser:
rs559130985
Molecular consequence:
  • NM_001142763.2:c.4323GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001142764.2:c.4308GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001142765.2:c.4095GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001142766.2:c.4299GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001142767.2:c.4188GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001142768.2:c.4242GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001142769.3:c.4344GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001142770.3:c.4308GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001142771.2:c.4323GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001142772.2:c.4308GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001142773.2:c.4233GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354404.2:c.4242GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354411.2:c.4329GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354420.2:c.4308GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354429.2:c.4308GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001384140.1:c.4308GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_033056.4:c.4308GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000899181Biochemistry Laboratory of CDMU,Chengde Medical Universityno assertion criteria provided
Likely pathogenicinheritedcase-control

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedcase-control

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 Biochemistry Laboratory of CDMU,Chengde Medical University, SCV000899181.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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