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NM_016180.5(SLC45A2):c.1456G>A (p.Ala486Thr) AND Oculocutaneous albinism type 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 15, 2024
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:
RCV004689540.1

Allele description [Variation Report for NM_016180.5(SLC45A2):c.1456G>A (p.Ala486Thr)]

NM_016180.5(SLC45A2):c.1456G>A (p.Ala486Thr)

Gene:
SLC45A2:solute carrier family 45 member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p13.2
Genomic location:
Preferred name:
NM_016180.5(SLC45A2):c.1456G>A (p.Ala486Thr)
HGVS:
  • NC_000005.10:g.33944785C>T
  • NG_011691.2:g.44891G>A
  • NG_011691.3:g.44908G>A
  • NG_104672.1:g.653C>T
  • NG_104673.1:g.152C>T
  • NM_016180.5:c.1456G>AMANE SELECT
  • NP_057264.4:p.Ala486Thr
  • NC_000005.9:g.33944890C>T
  • NM_016180.4:c.1456G>A
Protein change:
A486T
Molecular consequence:
  • NM_016180.5:c.1456G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Oculocutaneous albinism type 4 (OCA4)
Synonyms:
Albinism, oculocutaneous, type IV
Identifiers:
MONDO: MONDO:0011683; MedGen: C1847836; Orphanet: 79435; OMIM: 606574

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005185813Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(May 15, 2024) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients.

Wei A, Zhang T, Yuan Y, Qi Z, Bai D, Zhang Y, Zhang Y, Liu T, Huang Q, Yang X, Li W.

J Invest Dermatol. 2022 Jun;142(6):1752-1755.e3. doi: 10.1016/j.jid.2021.11.014. Epub 2021 Nov 24. No abstract available.

PubMed [citation]
PMID:
34838614

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005185813.1

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

Description

Variant summary: SLC45A2 c.1456G>A (p.Ala486Thr) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251166 control chromosomes. c.1456G>A has been reported in the literature in multiple individuals affected with albinism (example, Wei_2022). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 34838614). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: Dec 7, 2024