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NM_020244.3(CHPT1):c.127G>C (p.Glu43Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 13, 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:
RCV004439407.1

Allele description [Variation Report for NM_020244.3(CHPT1):c.127G>C (p.Glu43Gln)]

NM_020244.3(CHPT1):c.127G>C (p.Glu43Gln)

Gene:
CHPT1:choline phosphotransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.2
Genomic location:
Preferred name:
NM_020244.3(CHPT1):c.127G>C (p.Glu43Gln)
HGVS:
  • NC_000012.12:g.101697988G>C
  • NG_187120.1:g.505G>C
  • NM_020244.3:c.127G>CMANE SELECT
  • NP_064629.2:p.Glu43Gln
  • NC_000012.11:g.102091766G>C
  • NM_020244.2:c.127G>C
Protein change:
E43Q
Molecular consequence:
  • NM_020244.3:c.127G>C - 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
SCV004923929Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 13, 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, SCV004923929.1

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

Description

The c.127G>C (p.E43Q) alteration is located in exon 1 (coding exon 1) of the CHPT1 gene. This alteration results from a G to C substitution at nucleotide position 127, causing the glutamic acid (E) at amino acid position 43 to be replaced by a glutamine (Q). 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 7, 2024