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NM_016180.5(SLC45A2):c.869A>G (p.Asn290Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 3, 2021
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:
RCV002798422.2

Allele description [Variation Report for NM_016180.5(SLC45A2):c.869A>G (p.Asn290Ser)]

NM_016180.5(SLC45A2):c.869A>G (p.Asn290Ser)

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.869A>G (p.Asn290Ser)
HGVS:
  • NC_000005.10:g.33963710T>C
  • NG_011691.2:g.25966A>G
  • NG_011691.3:g.25983A>G
  • NM_001012509.4:c.869A>G
  • NM_001297417.4:c.563-9206A>G
  • NM_016180.5:c.869A>GMANE SELECT
  • NP_001012527.2:p.Asn290Ser
  • NP_057264.4:p.Asn290Ser
  • NC_000005.9:g.33963815T>C
  • NM_016180.3:c.869A>G
Protein change:
N290S
Molecular consequence:
  • NM_001297417.4:c.563-9206A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001012509.4:c.869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016180.5:c.869A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003587299Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 3, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003587299.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.869A>G (p.N290S) alteration is located in exon 3 (coding exon 3) of the SLC45A2 gene. This alteration results from a A to G substitution at nucleotide position 869, causing the asparagine (N) at amino acid position 290 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024