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NM_033409.4(SLC52A3):c.1051G>T (p.Val351Phe) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 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:
RCV003378441.2

Allele description [Variation Report for NM_033409.4(SLC52A3):c.1051G>T (p.Val351Phe)]

NM_033409.4(SLC52A3):c.1051G>T (p.Val351Phe)

Gene:
SLC52A3:solute carrier family 52 member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p13
Genomic location:
Preferred name:
NM_033409.4(SLC52A3):c.1051G>T (p.Val351Phe)
HGVS:
  • NC_000020.11:g.763520C>A
  • NG_027687.2:g.17466G>T
  • NM_001370085.1:c.1051G>T
  • NM_001370086.1:c.1051G>T
  • NM_033409.4:c.1051G>TMANE SELECT
  • NP_001357014.1:p.Val351Phe
  • NP_001357015.1:p.Val351Phe
  • NP_212134.3:p.Val351Phe
  • LRG_1394t1:c.1051G>T
  • LRG_1394:g.17466G>T
  • LRG_1394p1:p.Val351Phe
  • NC_000020.10:g.744164C>A
  • NM_033409.3:c.1051G>T
Protein change:
V351F
Molecular consequence:
  • NM_001370085.1:c.1051G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370086.1:c.1051G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033409.4:c.1051G>T - 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
SCV004082263Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 11, 2023) 		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, SCV004082263.2

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

Description

The c.1051G>T (p.V351F) alteration is located in exon 3 (coding exon 2) of the SLC52A3 gene. This alteration results from a G to T substitution at nucleotide position 1051, causing the valine (V) at amino acid position 351 to be replaced by a phenylalanine (F). 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