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NM_145201.6(NAPRT):c.475G>A (p.Ala159Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 26, 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:
RCV004267712.1

Allele description [Variation Report for NM_145201.6(NAPRT):c.475G>A (p.Ala159Thr)]

NM_145201.6(NAPRT):c.475G>A (p.Ala159Thr)

Gene:
NAPRT:nicotinate phosphoribosyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_145201.6(NAPRT):c.475G>A (p.Ala159Thr)
HGVS:
  • NC_000008.11:g.143577362C>T
  • NM_001286829.2:c.475G>A
  • NM_001363145.1:c.475G>A
  • NM_001363146.1:c.-94G>A
  • NM_145201.6:c.475G>AMANE SELECT
  • NP_001273758.1:p.Ala159Thr
  • NP_001350074.1:p.Ala159Thr
  • NP_660202.3:p.Ala159Thr
  • NC_000008.10:g.144659532C>T
  • NM_145201.4:c.475G>A
Protein change:
A159T
Molecular consequence:
  • NM_001363146.1:c.-94G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001286829.2:c.475G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363145.1:c.475G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145201.6:c.475G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003893833Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 26, 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, SCV003893833.2

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

Description

The c.475G>A (p.A159T) alteration is located in exon 4 (coding exon 4) of the NAPRT gene. This alteration results from a G to A substitution at nucleotide position 475, causing the alanine (A) at amino acid position 159 to be replaced by a threonine (T). 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: Nov 3, 2024