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NM_153676.4(USH1C):c.2112A>G (p.Pro704=) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 30, 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:
RCV002492599.1

Allele description [Variation Report for NM_153676.4(USH1C):c.2112A>G (p.Pro704=)]

NM_153676.4(USH1C):c.2112A>G (p.Pro704=)

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.2112A>G (p.Pro704=)
HGVS:
  • NC_000011.10:g.17505851T>C
  • NG_011883.2:g.43566A>G
  • NM_001297764.2:c.1228-3871A>G
  • NM_005709.4:c.1285-3871A>G
  • NM_153676.4:c.2112A>GMANE SELECT
  • NP_710142.1:p.Pro704=
  • NC_000011.9:g.17527398T>C
  • NG_011883.1:g.43566A>G
  • NM_005709.3:c.1285-3871A>G
  • NM_153676.3:c.2112A>G
  • p.Pro704Pro
Links:
dbSNP: rs199532754
NCBI 1000 Genomes Browser:
rs199532754
Molecular consequence:
  • NM_001297764.2:c.1228-3871A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005709.4:c.1285-3871A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_153676.4:c.2112A>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
Name:
Autosomal recessive nonsyndromic hearing loss 18A
Synonyms:
Deafness, autosomal recessive 18; Deafness, autosomal recessive 18A
Identifiers:
MONDO: MONDO:0011192; MedGen: C1865870; Orphanet: 90636; OMIM: 602092
Name:
Usher syndrome type 1 (USH1)
Synonyms:
Usher syndrome, type I, French variety; Retinitis pigmentosa and congenital deafness
Identifiers:
MONDO: MONDO:0010168; MedGen: C1568247; Orphanet: 231169; Orphanet: 886; OMIM: 276900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002803716Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Jul 30, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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 Fulgent Genetics, Fulgent Genetics, SCV002803716.1

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

Last Updated: Oct 13, 2024