NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) AND Usher syndrome type 1C

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 27, 2019
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:: RCV000791090.4

Allele description [Variation Report for NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser)]

NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser)

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.2419G>A (p.Gly807Ser)

HGVS:

NC_000011.10:g.17498233C>T
NG_011883.2:g.51184G>A
NM_001297764.2:c.1462G>A
NM_005709.4:c.1519G>A
NM_153676.4:c.2419G>AMANE SELECT
NP_001284693.1:p.Gly488Ser
NP_005700.2:p.Gly507Ser
NP_710142.1:p.Gly807Ser
NC_000011.9:g.17519780C>T
NG_011883.1:g.51184G>A
NM_005709.3:c.1519G>A
NM_153676.3:c.2419G>A
NR_123738.2:n.1554G>A

Protein change:

G488S

Links:

dbSNP: rs142652588

NCBI 1000 Genomes Browser:

rs142652588

Molecular consequence:

NM_001297764.2:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005709.4:c.1519G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_153676.4:c.2419G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_123738.2:n.1554G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Usher syndrome type 1C
Synonyms:: USHER SYNDROME, TYPE I, ACADIAN VARIETY; Usher syndrome, Acadian variety
Identifiers:: MONDO: MONDO:0010171; MedGen: C1848604; Orphanet: 231169; Orphanet: 886; OMIM: 276904

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000930361	Genomic Research Center, Shahid Beheshti University of Medical Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 27, 2019)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001462399	Natera, Inc.	no assertion criteria provided	Uncertain significance (Apr 11, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000930361

Genomic Research Center, Shahid Beheshti University of Medical Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 27, 2019)

unknown

clinical testing

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

SCV001462399

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Apr 11, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	no	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 Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV000930361.1

#	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	unknown	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Natera, Inc., SCV001462399.1

#	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: Sep 29, 2024

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