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NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 14, 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:
RCV002483822.1

Allele description [Variation Report for NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys)]

NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys)

Gene:
OFD1:OFD1 centriole and centriolar satellite protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.2
Genomic location:
Preferred name:
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys)
HGVS:
  • NC_000023.11:g.13757716G>A
  • NG_008872.1:g.28004G>A
  • NM_001330209.2:c.1348G>A
  • NM_001330210.2:c.1048G>A
  • NM_003611.3:c.1468G>AMANE SELECT
  • NP_001317138.1:p.Glu450Lys
  • NP_001317139.1:p.Glu350Lys
  • NP_003602.1:p.Glu490Lys
  • NC_000023.10:g.13775835G>A
  • NM_003611.2:c.1468G>A
Protein change:
E350K
Links:
dbSNP: rs1454731121
NCBI 1000 Genomes Browser:
rs1454731121
Molecular consequence:
  • NM_001330209.2:c.1348G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330210.2:c.1048G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003611.3:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Orofaciodigital syndrome I (OFD1)
Synonyms:
OFDS I; Orofaciodigital syndrome 1; OFD syndrome 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010702; MedGen: C1510460; Orphanet: 2750; OMIM: 311200
Name:
Retinitis pigmentosa 23 (RP23)
Synonyms:
RP 23
Identifiers:
MONDO: MONDO:0010320; MedGen: C1419610; Orphanet: 791; OMIM: 300424
Name:
Simpson-Golabi-Behmel syndrome type 2
Identifiers:
MONDO: MONDO:0010265; MedGen: C1846175; Orphanet: 79022; OMIM: 300209
Name:
Joubert syndrome 10 (JBTS10)
Identifiers:
MONDO: MONDO:0010431; MedGen: C2749019; Orphanet: 2754; OMIM: 300804

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002785662Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 14, 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, SCV002785662.1

#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: Sep 29, 2024