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NM_024420.3(PLA2G4A):c.703T>A (p.Ser235Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 17, 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:
RCV004319188.1

Allele description [Variation Report for NM_024420.3(PLA2G4A):c.703T>A (p.Ser235Thr)]

NM_024420.3(PLA2G4A):c.703T>A (p.Ser235Thr)

Gene:
PLA2G4A:phospholipase A2 group IVA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q31.1
Genomic location:
Preferred name:
NM_024420.3(PLA2G4A):c.703T>A (p.Ser235Thr)
HGVS:
  • NC_000001.11:g.186939015T>A
  • NG_012203.2:g.115116T>A
  • NM_001311193.2:c.523T>A
  • NM_024420.3:c.703T>AMANE SELECT
  • NP_001298122.2:p.Ser175Thr
  • NP_077734.2:p.Ser235Thr
  • LRG_596t1:c.703T>A
  • LRG_596:g.115116T>A
  • LRG_596p1:p.Ser235Thr
  • NC_000001.10:g.186908147T>A
  • NM_024420.2:c.703T>A
Protein change:
S175T
Molecular consequence:
  • NM_001311193.2:c.523T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024420.3:c.703T>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
SCV003981822Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 17, 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, SCV003981822.2

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

Description

The c.703T>A (p.S235T) alteration is located in exon 9 (coding exon 8) of the PLA2G4A gene. This alteration results from a T to A substitution at nucleotide position 703, causing the serine (S) at amino acid position 235 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 10, 2024