NM_000372.4(TYR):c.575C>A (p.Ser192Tyr) AND Oculocutaneous albinism

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000341159.2

Allele description [Variation Report for NM_000372.4(TYR):c.575C>A (p.Ser192Tyr)]

NM_000372.4(TYR):c.575C>A (p.Ser192Tyr)

Gene:
TYR:tyrosinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q14.3
Genomic location:
Preferred name:
NM_000372.4(TYR):c.575C>A (p.Ser192Tyr)
Other names:
TYR, SER192TYR (rs1042602)
HGVS:
  • NC_000011.10:g.89178528C>A
  • NG_008748.1:g.5657C>A
  • NM_000372.4:c.575C>A
  • NP_000363.1:p.Ser192Tyr
  • NC_000011.9:g.88911696C>A
  • P14679:p.Ser192Tyr
Protein change:
S192Y; SER192TYR
Links:
UniProtKB: P14679#VAR_007662; OMIM: 606933.0008; dbSNP: rs1042602
NCBI 1000 Genomes Browser:
rs1042602
Molecular consequence:
  • NM_000372.4:c.575C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Oculocutaneous albinism
Identifiers:
MedGen: C0078918; OMIM: PS203100

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000374871Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV000777829Kasturba Medical College,Manipal Universityno assertion criteria providedUncertain significanceinheritedresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedinheritedyes1not providednot providednot providednot providedresearch

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000374871.2

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

From Kasturba Medical College,Manipal University, SCV000777829.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

Support Center