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NM_001093725.2(MEX3A):c.382G>A (p.Gly128Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 12, 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:
RCV004226519.1

Allele description [Variation Report for NM_001093725.2(MEX3A):c.382G>A (p.Gly128Ser)]

NM_001093725.2(MEX3A):c.382G>A (p.Gly128Ser)

Gene:
MEX3A:mex-3 RNA binding family member A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_001093725.2(MEX3A):c.382G>A (p.Gly128Ser)
HGVS:
  • NC_000001.11:g.156081617C>T
  • NG_008692.2:g.4045C>T
  • NG_092345.1:g.265C>T
  • NM_001093725.2:c.382G>AMANE SELECT
  • NP_001087194.1:p.Gly128Ser
  • LRG_254:g.4045C>T
  • NC_000001.10:g.156051408C>T
  • NM_001093725.1:c.382G>A
Protein change:
G128S
Molecular consequence:
  • NM_001093725.2:c.382G>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
SCV003739178Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 12, 2022) 		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, SCV003739178.2

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

Description

The c.382G>A (p.G128S) alteration is located in exon 1 (coding exon 1) of the MEX3A gene. This alteration results from a G to A substitution at nucleotide position 382, causing the glycine (G) at amino acid position 128 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: Oct 26, 2024