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NM_197964.5(FMC1):c.104A>G (p.Tyr35Cys) AND Usher syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 31, 2022
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:
RCV003389527.1

Allele description [Variation Report for NM_197964.5(FMC1):c.104A>G (p.Tyr35Cys)]

NM_197964.5(FMC1):c.104A>G (p.Tyr35Cys)

Genes:
FMC1-LUC7L2:FMC1-LUC7L2 readthrough [Gene - HGNC]
LUC7L2:LUC7 like 2, pre-mRNA splicing factor [Gene - OMIM - HGNC]
FMC1:formation of mitochondrial complex V assembly factor 1 homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_197964.5(FMC1):c.104A>G (p.Tyr35Cys)
HGVS:
  • NC_000007.14:g.139341488A>G
  • NG_030012.1:g.6110A>G
  • NG_112583.1:g.276A>G
  • NM_001244584.3:c.104A>G
  • NM_001244585.2:c.-26+971A>G
  • NM_197964.5:c.104A>GMANE SELECT
  • NP_001231513.1:p.Tyr35Cys
  • NP_932068.2:p.Tyr35Cys
  • NC_000007.13:g.139026234A>G
Protein change:
Y35C
Molecular consequence:
  • NM_001244585.2:c.-26+971A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001244584.3:c.104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_197964.5:c.104A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome
Synonyms:
Usher Syndromes; Usher's syndrome
Identifiers:
MONDO: MONDO:0019501; MeSH: D052245; MedGen: C0271097; Orphanet: 886; OMIM: PS276900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003927084SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 31, 2022) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch

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 SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation, SCV003927084.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024