NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg) AND Usher syndrome type 1F

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: May 18, 2021
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:: RCV001526739.4

Allele description [Variation Report for NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg)]

NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg)

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.5318C>G (p.Pro1773Arg)

HGVS:

NC_000010.11:g.53822408G>C
NG_009191.3:g.1811775C>G
NM_001142763.2:c.5339C>G
NM_001142764.2:c.5324C>G
NM_001142765.2:c.5111C>G
NM_001142766.2:c.5309C>G
NM_001142767.2:c.5198C>G
NM_001142768.2:c.5258C>G
NM_001142769.3:c.4409+2728C>G
NM_001142770.3:c.4373+2728C>G
NM_001142771.2:c.4388+2728C>G
NM_001142772.2:c.4373+2728C>G
NM_001142773.2:c.5249C>G
NM_001354404.2:c.5252C>G
NM_001354411.2:c.4388+4985C>G
NM_001354420.2:c.4367+4985C>G
NM_001354429.2:c.4368-4395C>G
NM_001384140.1:c.4368-2178C>GMANE SELECT
NM_033056.4:c.5318C>G
NP_001136235.1:p.Pro1780Arg
NP_001136236.1:p.Pro1775Arg
NP_001136237.1:p.Pro1704Arg
NP_001136238.1:p.Pro1770Arg
NP_001136239.1:p.Pro1733Arg
NP_001136240.1:p.Pro1753Arg
NP_001136245.1:p.Pro1750Arg
NP_001341333.1:p.Pro1751Arg
NP_149045.3:p.Pro1773Arg
NC_000010.10:g.55582168G>C
NM_033056.3:c.5318C>G

Protein change:

P1704R

Links:

dbSNP: rs745583797

NCBI 1000 Genomes Browser:

rs745583797

Molecular consequence:

NM_001142769.3:c.4409+2728C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001142770.3:c.4373+2728C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001142771.2:c.4388+2728C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001142772.2:c.4373+2728C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354411.2:c.4388+4985C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354420.2:c.4367+4985C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354429.2:c.4368-4395C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001384140.1:c.4368-2178C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001142763.2:c.5339C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001142764.2:c.5324C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001142765.2:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001142766.2:c.5309C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001142767.2:c.5198C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001142768.2:c.5258C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001142773.2:c.5249C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354404.2:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_033056.4:c.5318C>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001737197	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 18, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002081317	Natera, Inc.	no assertion criteria provided	Uncertain significance (Nov 11, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001737197

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 18, 2021)

germline

clinical testing

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

SCV002081317

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Nov 11, 2019)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Genome-Nilou Lab, SCV001737197.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Natera, Inc., SCV002081317.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 9, 2023

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