NM_015040.4(PIKFYVE):c.3503A>G (p.Asp1168Gly) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 29, 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:
RCV003355260.2

Allele description [Variation Report for NM_015040.4(PIKFYVE):c.3503A>G (p.Asp1168Gly)]

NM_015040.4(PIKFYVE):c.3503A>G (p.Asp1168Gly)

Gene:
PIKFYVE:phosphoinositide kinase, FYVE-type zinc finger containing [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q34
Genomic location:
Preferred name:
NM_015040.4(PIKFYVE):c.3503A>G (p.Asp1168Gly)
HGVS:
  • NC_000002.12:g.208326314A>G
  • NG_021188.1:g.65048A>G
  • NG_021188.2:g.65260A>G
  • NM_015040.4:c.3503A>GMANE SELECT
  • NP_055855.2:p.Asp1168Gly
  • NC_000002.11:g.209191038A>G
  • NM_015040.3:c.3503A>G
Protein change:
D1168G
Molecular consequence:
  • NM_015040.4:c.3503A>G - 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
SCV004077834Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 29, 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, SCV004077834.2

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

Description

The c.3503A>G (p.D1168G) alteration is located in exon 20 (coding exon 19) of the PIKFYVE gene. This alteration results from a A to G substitution at nucleotide position 3503, causing the aspartic acid (D) at amino acid position 1168 to be replaced by a glycine (G). 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