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NM_205850.3(SLC24A5):c.494C>G (p.Ser165Ter) AND Oculocutaneous albinism type 6

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2023
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:
RCV003129571.2

Allele description [Variation Report for NM_205850.3(SLC24A5):c.494C>G (p.Ser165Ter)]

NM_205850.3(SLC24A5):c.494C>G (p.Ser165Ter)

Genes:
MYEF2:myelin expression factor 2 [Gene - OMIM - HGNC]
SLC24A5:solute carrier family 24 member 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_205850.3(SLC24A5):c.494C>G (p.Ser165Ter)
HGVS:
  • NC_000015.10:g.48134888C>G
  • NG_011500.1:g.18917C>G
  • NM_001301210.2:c.*8020G>C
  • NM_016132.5:c.*8020G>CMANE SELECT
  • NM_205850.3:c.494C>GMANE SELECT
  • NP_995322.1:p.Ser165Ter
  • NC_000015.9:g.48427085C>G
Protein change:
S165*
Molecular consequence:
  • NM_001301210.2:c.*8020G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016132.5:c.*8020G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_205850.3:c.494C>G - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Oculocutaneous albinism type 6 (OCA6)
Synonyms:
Albinism, oculocutaneous, type VI
Identifiers:
MONDO: MONDO:0018264; MedGen: C3805375; Orphanet: 370097; OMIM: 113750

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003804979Pediatrics Genetics, Post Graduate Institute of Medical Education and Research
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 1, 2023) 		inheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
North Indianinheritedno1not 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 Pediatrics Genetics, Post Graduate Institute of Medical Education and Research, SCV003804979.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1North Indian1not providednot providedclinical testing PubMed (1)

Description

PVS1: null variant (nonsense, frameshift, canonical +- 2 splice sites, initiation codon, single or multiexon deletion) in a gene where LOF is a known mechanism of disease PM2: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium PP3: Multiple lines of computational evidence support a deleterious effect on the gene or gene product (conservation, evolutionary, splicing impact, etc.)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritednonot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 9, 2023