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NM_001346754.2(PIGW):c.1087G>A (p.Ala363Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 7, 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:
RCV003204672.2

Allele description [Variation Report for NM_001346754.2(PIGW):c.1087G>A (p.Ala363Thr)]

NM_001346754.2(PIGW):c.1087G>A (p.Ala363Thr)

Genes:
MYO19:myosin XIX [Gene - OMIM - HGNC]
PIGW:phosphatidylinositol glycan anchor biosynthesis class W [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_001346754.2(PIGW):c.1087G>A (p.Ala363Thr)
HGVS:
  • NC_000017.11:g.36538188G>A
  • NG_052004.1:g.8427G>A
  • NG_052004.2:g.8203G>A
  • NM_001346754.2:c.1087G>AMANE SELECT
  • NM_001346755.2:c.1087G>A
  • NM_178517.5:c.1087G>A
  • NP_001333683.1:p.Ala363Thr
  • NP_001333684.1:p.Ala363Thr
  • NP_848612.2:p.Ala363Thr
  • NC_000017.10:g.34894037G>A
  • NM_178517.3:c.1087G>A
Protein change:
A363T
Molecular consequence:
  • NM_001346754.2:c.1087G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346755.2:c.1087G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178517.5:c.1087G>A - 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
SCV003898998Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 7, 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, SCV003898998.2

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

Description

The c.1087G>A (p.A363T) alteration is located in exon 2 (coding exon 1) of the PIGW gene. This alteration results from a G to A substitution at nucleotide position 1087, causing the alanine (A) at amino acid position 363 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: May 1, 2024