NM_000372.5(TYR):c.230G>A (p.Arg77Gln) AND Tyrosinase-negative oculocutaneous albinism

Clinical significance:Pathogenic (Last evaluated: Jul 22, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
7 submissions [Details]
Record status:
current
Accession:
RCV000003975.7

Allele description [Variation Report for NM_000372.5(TYR):c.230G>A (p.Arg77Gln)]

NM_000372.5(TYR):c.230G>A (p.Arg77Gln)

Gene:
TYR:tyrosinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q14.3
Genomic location:
Preferred name:
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
Other names:
R59Q
HGVS:
  • NC_000011.10:g.89178183G>A
  • NG_008748.1:g.5312G>A
  • NM_000372.5:c.230G>AMANE SELECT
  • NP_000363.1:p.Arg77Gln
  • NC_000011.9:g.88911351G>A
  • NM_000372.4:c.230G>A
  • P14679:p.Arg77Gln
Protein change:
R77Q; ARG59GLN
Links:
UniProtKB: P14679#VAR_007655; OMIM: 606933.0005; OMIM: 606933.0010; dbSNP: rs61753185
NCBI 1000 Genomes Browser:
rs61753185
Molecular consequence:
  • NM_000372.5:c.230G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Name:
Tyrosinase-negative oculocutaneous albinism (OCA1A)
Synonyms:
Oculocutaneous albinism type 1A; Albinism, oculocutaneous, type IA
Identifiers:
MONDO: MONDO:0008745; MedGen: C4551504; Orphanet: 352731; Orphanet: 79431; OMIM: 203100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000024140OMIMno assertion criteria providedPathogenic
(Jul 15, 1992)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

SCV000249336Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Pathogenic
(Mar 16, 2015)
germlineclinical testing

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

SCV000890897Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesotacriteria provided, single submitter
Pathogenic
(Feb 9, 2017)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV000996277Pathology and Clinical Laboratory Medicine,King Fahad Medical Citycriteria provided, single submitter
Pathogenicgermlineclinical testing

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

SCV001132869Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical Cityno assertion criteria providedPathogenic
(Jan 29, 2019)
germlineclinical testing

SCV001524703Baylor Geneticscriteria provided, single submitter
Pathogenic
(Jan 22, 2020)
unknownclinical testing

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

SCV001821923Nilou-Genome Labcriteria provided, single submitter
Pathogenic
(Jul 22, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
Arabgermlineyes3not providednot providednot providednot providedclinical testing

Citations

PubMed

Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.

Tripathi RK, Strunk KM, Giebel LB, Weleber RG, Spritz RA.

Am J Med Genet. 1992 Jul 15;43(5):865-71.

PubMed [citation]
PMID:
1642278

Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA.

Kikuchi H, Hara S, Ishiguro S, Tamai M, Watanabe M.

Hum Genet. 1990 Jun;85(1):123-4.

PubMed [citation]
PMID:
2113511
See all PubMed Citations (6)

Details of each submission

From OMIM, SCV000024140.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

By enzymatic DNA amplification and direct DNA sequencing, Kikuchi et al. (1990) demonstrated a G-to-A change in nucleotide 309. This was thought to result in a change of arginine-77 to glutamine. Also see Tripathi et al. (1992).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From Genetic Services Laboratory, University of Chicago, SCV000249336.1

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

From Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota, SCV000890897.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

From Pathology and Clinical Laboratory Medicine,King Fahad Medical City, SCV000996277.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Arab3not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

From Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City, SCV001132869.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV001524703.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

From Nilou-Genome Lab, SCV001821923.1

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

Last Updated: Sep 7, 2021

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