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NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr) AND Abnormality of the musculature

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 10, 2021
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:
RCV001813998.1

Allele description [Variation Report for NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr)]

NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr)

Gene:
CHAT:choline O-acetyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr)
HGVS:
  • NC_000010.11:g.49627681T>C
  • NG_011797.1:g.23587T>C
  • NM_001142929.2:c.653T>C
  • NM_001142933.2:c.761T>C
  • NM_001142934.2:c.653T>C
  • NM_020549.5:c.1007T>CMANE SELECT
  • NM_020984.4:c.653T>C
  • NM_020985.4:c.653T>C
  • NM_020986.4:c.653T>C
  • NP_001136401.2:p.Ile218Thr
  • NP_001136405.2:p.Ile254Thr
  • NP_001136406.2:p.Ile218Thr
  • NP_065574.4:p.Ile336Thr
  • NP_066264.4:p.Ile218Thr
  • NP_066265.4:p.Ile218Thr
  • NP_066266.4:p.Ile218Thr
  • NC_000010.10:g.50835727T>C
  • P28329:p.Ile336Thr
Protein change:
I218T; ILE336THR
Links:
UniProtKB: P28329#VAR_038605; OMIM: 118490.0011; dbSNP: rs121912823
NCBI 1000 Genomes Browser:
rs121912823
Molecular consequence:
  • NM_001142929.2:c.653T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142933.2:c.761T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142934.2:c.653T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020549.5:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020984.4:c.653T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020985.4:c.653T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020986.4:c.653T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Abnormality of the musculature
Identifiers:
MedGen: C4021745; Human Phenotype Ontology: HP:0003011

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001755129Kariminejad - Najmabadi Pathology & Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 10, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Kariminejad - Najmabadi Pathology & Genetics Center, SCV001755129.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024