NM_020244.3(CHPT1):c.76C>G (p.Leu26Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 9, 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:: RCV004439410.1

Allele description [Variation Report for NM_020244.3(CHPT1):c.76C>G (p.Leu26Val)]

NM_020244.3(CHPT1):c.76C>G (p.Leu26Val)

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.76C>G (p.Leu26Val)

HGVS:

NC_000012.12:g.101697937C>G
NG_187120.1:g.454C>G
NM_020244.3:c.76C>GMANE SELECT
NP_064629.2:p.Leu26Val
NC_000012.11:g.102091715C>G
NM_020244.2:c.76C>G

Protein change:

L26V

Molecular consequence:

NM_020244.3:c.76C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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ankyrin repeat domain 36 isoform X6 [Mus musculus]
ankyrin repeat domain 36 isoform X6 [Mus musculus]
gi|568970651|ref|XP_006514953.1|

Protein
PREDICTED: Mus musculus ankyrin repeat domain 36 (Ankrd36), transcript variant X...
PREDICTED: Mus musculus ankyrin repeat domain 36 (Ankrd36), transcript variant X10, mRNA
gi|1039738603|ref|XM_017314827.1|

Nucleotide
rhomboid domain-containing protein 3 isoform X3 [Mus musculus]
rhomboid domain-containing protein 3 isoform X3 [Mus musculus]
gi|1720366404|ref|XP_030101921.1|

Protein
cytochrome b, partial (mitochondrion) [Xanthonycticebus pygmaeus]
cytochrome b, partial (mitochondrion) [Xanthonycticebus pygmaeus]
gi|2473904325|gb|WFD50112.1|

Protein
Rorippa sylvestris isolate 2_C2 bacterial cytokinesis Z-ring protein FTSZ 1-1-li...
Rorippa sylvestris isolate 2_C2 bacterial cytokinesis Z-ring protein FTSZ 1-1-like protein (AT5G55280) gene, partial cds
gi|2545607028|gb|ON564269.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004923932	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 9, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004923932

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 9, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004923932.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.76C>G (p.L26V) alteration is located in exon 1 (coding exon 1) of the CHPT1 gene. This alteration results from a C to G substitution at nucleotide position 76, causing the leucine (L) at amino acid position 26 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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