NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly) AND Oculocutaneous albinism type 4

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 1, 2022
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:: RCV002283574.1

Allele description [Variation Report for NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly)]

NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly)

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.274A>G (p.Ser92Gly)

HGVS:

NC_000005.10:g.33984310T>C
NG_011691.2:g.5366A>G
NM_001012509.4:c.274A>G
NM_001297417.4:c.274A>G
NM_016180.5:c.274A>GMANE SELECT
NP_001012527.2:p.Ser92Gly
NP_001284346.2:p.Ser92Gly
NP_057264.4:p.Ser92Gly
NC_000005.9:g.33984415T>C
NM_016180.4:c.274A>G

Protein change:

S92G

Links:

dbSNP: rs755311638

NCBI 1000 Genomes Browser:

rs755311638

Molecular consequence:

NM_001012509.4:c.274A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001297417.4:c.274A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_016180.5:c.274A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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

Recent activity

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ADP/ATP translocase 3 [Homo sapiens]
ADP/ATP translocase 3 [Homo sapiens]
gi|156071462|ref|NP_001627.2|

Protein
BioSample links for Nucleotide (Select 23287967) (1)
BioSample
NCI_CGAP_FL1
NCI_CGAP_FL1

biosample
Assembly for Nucleotide (Select 2724529042) (1)
Assembly
SAMN03656190 (1)
SRA

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002572874	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 1, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 27734839, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002572874

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 1, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Clinical evaluation and molecular screening of a large consecutive series of albino patients.

Mauri L, Manfredini E, Del Longo A, Veniani E, Scarcello M, Terrana R, Radaelli AE, Calò D, Mingoia G, Rossetti A, Marsico G, Mazza M, Gesu GP, Cristina Patrosso M, Penco S, Piozzi E, Primignani P.

J Hum Genet. 2017 Feb;62(2):277-290. doi: 10.1038/jhg.2016.123. Epub 2016 Oct 13.

PubMed [citation]

PMID:: 27734839

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 3billion, SCV002572874.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.003%). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.95; 3Cnet: 0.97). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with SLC45A2-related disorder (PMID: 27734839). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 19, 2024

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