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NM_000310.4(PPT1):c.310A>G (p.Lys104Glu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 22, 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:
RCV003362718.2

Allele description [Variation Report for NM_000310.4(PPT1):c.310A>G (p.Lys104Glu)]

NM_000310.4(PPT1):c.310A>G (p.Lys104Glu)

Gene:
PPT1:palmitoyl-protein thioesterase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_000310.4(PPT1):c.310A>G (p.Lys104Glu)
Other names:
p.K104E:AAA>GAA
HGVS:
  • NC_000001.11:g.40092097T>C
  • NG_009192.1:g.10374A>G
  • NM_000310.4:c.310A>GMANE SELECT
  • NM_001142604.2:c.125-2585A>G
  • NM_001363695.2:c.310A>G
  • NP_000301.1:p.Lys104Glu
  • NP_000301.1:p.Lys104Glu
  • NP_001350624.1:p.Lys104Glu
  • LRG_690t1:c.310A>G
  • LRG_690:g.10374A>G
  • LRG_690p1:p.Lys104Glu
  • NC_000001.10:g.40557769T>C
  • NM_000310.3:c.310A>G
Protein change:
K104E
Links:
dbSNP: rs386833641
NCBI 1000 Genomes Browser:
rs386833641
Molecular consequence:
  • NM_001142604.2:c.125-2585A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000310.4:c.310A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363695.2:c.310A>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
SCV004054805Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 22, 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, SCV004054805.2

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

Description

The c.310A>G (p.K104E) alteration is located in exon 3 (coding exon 3) of the PPT1 gene. This alteration results from a A to G substitution at nucleotide position 310, causing the lysine (K) at amino acid position 104 to be replaced by a glutamic acid (E). 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