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NM_001071.4(TYMS):c.85G>A (p.Gly29Arg) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 10, 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:
RCV002827154.1

Allele description [Variation Report for NM_001071.4(TYMS):c.85G>A (p.Gly29Arg)]

NM_001071.4(TYMS):c.85G>A (p.Gly29Arg)

Genes:
TYMSOS:TYMS opposite strand RNA [Gene - HGNC]
TYMS:thymidylate synthetase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18p11.32
Genomic location:
Preferred name:
NM_001071.4(TYMS):c.85G>A (p.Gly29Arg)
HGVS:
  • NC_000018.10:g.657827G>A
  • NG_028255.1:g.5224G>A
  • NG_138210.1:g.551G>A
  • NG_138211.1:g.49G>A
  • NM_001071.4:c.85G>AMANE SELECT
  • NM_001354867.2:c.85G>A
  • NM_001354868.2:c.85G>A
  • NP_001062.1:p.Gly29Arg
  • NP_001062.1:p.Gly29Arg
  • NP_001341796.1:p.Gly29Arg
  • NP_001341797.1:p.Gly29Arg
  • LRG_783t1:c.85G>A
  • LRG_783:g.5224G>A
  • LRG_783p1:p.Gly29Arg
  • NC_000018.9:g.657827G>A
  • NM_001071.2:c.85G>A
Protein change:
G29R
Molecular consequence:
  • NM_001071.4:c.85G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354867.2:c.85G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354868.2:c.85G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003615113Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)
Uncertain significance
(Feb 10, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV003615113.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.85G>A (p.G29R) alteration is located in exon 1 (coding exon 1) of the TYMS gene. This alteration results from a G to A substitution at nucleotide position 85, causing the glycine (G) at amino acid position 29 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 13, 2023