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NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly) AND SLC45A2-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 11, 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:
RCV003408040.4

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]

Condition(s)

Name:
SLC45A2-related disorder
Synonyms:
SLC45A2-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004115282PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 11, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot 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 PreventionGenetics, part of Exact Sciences, SCV004115282.1

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

Description

The SLC45A2 c.274A>G variant is predicted to result in the amino acid substitution p.Ser92Gly. This variant has been reported in the absence of a second SLC45A2 variant in an individual with oculocutaneous albinism (Mauri et al. 2017. PubMed ID: 27734839). At PreventionGenetics, we have observed this variant in trans with a pathogenic frameshift variant in an individual undergoing testing for oculocutaneous albinism (internal data). An alternate substitution of this amino acid (p.Ser92Arg) has been reported along with a second SLC45A2 variant in an individual with oculocutaneous albinism (patient 958 in Table S1 in Wei et al. 2022. PubMed ID: 34838614). This c.274A>G (p.Ser92Gly) variant is reported in 0.0097% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-33984415-T-C). Given the evidence, we interpret this variant as likely pathogenic.

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

Last Updated: Sep 29, 2024