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NM_001384140.1(PCDH15):c.470A>G (p.Asn157Ser) AND Usher syndrome type 1F

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 11, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001826811.1

Allele description [Variation Report for NM_001384140.1(PCDH15):c.470A>G (p.Asn157Ser)]

NM_001384140.1(PCDH15):c.470A>G (p.Asn157Ser)

Gene:
PCDH15:protocadherin related 15 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.1
Genomic location:
Preferred name:
NM_001384140.1(PCDH15):c.470A>G (p.Asn157Ser)
HGVS:
  • NC_000010.11:g.54369124T>C
  • NG_009191.3:g.1265059A>G
  • NM_001142763.2:c.485A>G
  • NM_001142764.2:c.470A>G
  • NM_001142765.2:c.470A>G
  • NM_001142766.2:c.470A>G
  • NM_001142767.2:c.470A>G
  • NM_001142768.2:c.404A>G
  • NM_001142769.3:c.485A>G
  • NM_001142770.3:c.470A>G
  • NM_001142771.2:c.485A>G
  • NM_001142772.2:c.470A>G
  • NM_001142773.2:c.404A>G
  • NM_001354404.2:c.404A>G
  • NM_001354411.2:c.470A>G
  • NM_001354420.2:c.470A>G
  • NM_001354429.2:c.470A>G
  • NM_001354430.2:c.470A>G
  • NM_001384140.1:c.470A>GMANE SELECT
  • NM_033056.4:c.470A>G
  • NP_001136235.1:p.Asn162Ser
  • NP_001136236.1:p.Asn157Ser
  • NP_001136237.1:p.Asn157Ser
  • NP_001136238.1:p.Asn157Ser
  • NP_001136239.1:p.Asn157Ser
  • NP_001136240.1:p.Asn135Ser
  • NP_001136241.1:p.Asn162Ser
  • NP_001136242.1:p.Asn157Ser
  • NP_001136243.1:p.Asn162Ser
  • NP_001136244.1:p.Asn157Ser
  • NP_001136245.1:p.Asn135Ser
  • NP_001341333.1:p.Asn135Ser
  • NP_001341340.1:p.Asn157Ser
  • NP_001341349.1:p.Asn157Ser
  • NP_001341358.1:p.Asn157Ser
  • NP_001341359.1:p.Asn157Ser
  • NP_001371069.1:p.Asn157Ser
  • NP_149045.3:p.Asn157Ser
  • NC_000010.10:g.56128884T>C
  • NM_033056.3:c.470A>G
Protein change:
N135S
Links:
dbSNP: rs727503368
NCBI 1000 Genomes Browser:
rs727503368
Molecular consequence:
  • NM_001142763.2:c.485A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142764.2:c.470A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142765.2:c.470A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142766.2:c.470A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142767.2:c.470A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142768.2:c.404A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142769.3:c.485A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142770.3:c.470A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142771.2:c.485A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142772.2:c.470A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142773.2:c.404A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354404.2:c.404A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354411.2:c.470A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354420.2:c.470A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354429.2:c.470A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354430.2:c.470A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384140.1:c.470A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033056.4:c.470A>G - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002094929Natera, Inc.
no assertion criteria provided
Uncertain significance
(Nov 11, 2019) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002094929.1

#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: Sep 29, 2024