NM_020549.4(CHAT):c.2177C>T (p.Pro726Leu) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Nov 24, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000413625.1

Allele description [Variation Report for NM_020549.4(CHAT):c.2177C>T (p.Pro726Leu)]

NM_020549.4(CHAT):c.2177C>T (p.Pro726Leu)

Gene:
CHAT:choline O-acetyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_020549.4(CHAT):c.2177C>T (p.Pro726Leu)
HGVS:
  • NC_000010.11:g.49664976C>T
  • NG_011797.1:g.60882C>T
  • NM_001142929.1:c.1823C>T
  • NM_001142933.1:c.1931C>T
  • NM_001142934.1:c.1823C>T
  • NM_020549.4:c.2177C>T
  • NM_020984.3:c.1823C>T
  • NM_020985.3:c.1823C>T
  • NM_020986.3:c.1823C>T
  • NP_001136401.1:p.Pro608Leu
  • NP_001136405.1:p.Pro644Leu
  • NP_001136406.1:p.Pro608Leu
  • NP_065574.3:p.Pro726Leu
  • NP_066264.3:p.Pro608Leu
  • NP_066265.3:p.Pro608Leu
  • NP_066266.3:p.Pro608Leu
  • NC_000010.10:g.50873022C>T
Protein change:
P608L
Links:
dbSNP: rs79414242
NCBI 1000 Genomes Browser:
rs79414242
Molecular consequence:
  • NM_001142929.1:c.1823C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142933.1:c.1931C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142934.1:c.1823C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020549.4:c.2177C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020984.3:c.1823C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020985.3:c.1823C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020986.3:c.1823C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000492099GeneDxcriteria provided, single submitter
Uncertain significance
(Nov 24, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000492099.1

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

Description

The P726L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The P726L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved, and missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with congenital myasthenia syndrome (Stenson et al., 2014). In silico analysis predicts this variant likely does not alter the protein structure/function.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2021

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