NM_020549.4(CHAT):c.1248C>T (p.Asn416=) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(2);Uncertain significance(1) (Last evaluated: Jul 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000676668.6

Allele description [Variation Report for NM_020549.4(CHAT):c.1248C>T (p.Asn416=)]

NM_020549.4(CHAT):c.1248C>T (p.Asn416=)

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.1248C>T (p.Asn416=)
HGVS:
  • NC_000010.11:g.49646641C>T
  • NG_011797.1:g.42547C>T
  • NM_001142929.1:c.894C>T
  • NM_001142933.1:c.1002C>T
  • NM_001142934.1:c.894C>T
  • NM_020549.4:c.1248C>T
  • NM_020984.3:c.894C>T
  • NM_020985.3:c.894C>T
  • NM_020986.3:c.894C>T
  • NP_001136401.1:p.Asn298=
  • NP_001136405.1:p.Asn334=
  • NP_001136406.1:p.Asn298=
  • NP_065574.3:p.Asn416=
  • NP_066264.3:p.Asn298=
  • NP_066265.3:p.Asn298=
  • NP_066266.3:p.Asn298=
  • NC_000010.10:g.50854687C>T
Links:
dbSNP: rs116071049
NCBI 1000 Genomes Browser:
rs116071049
Molecular consequence:
  • NM_001142929.1:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001142933.1:c.1002C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001142934.1:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020549.4:c.1248C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020984.3:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020985.3:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020986.3:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000232767EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Dec 8, 2014)
germlineclinical testing

Citation Link,

SCV000802463Mayo Clinic Laboratories, Mayo Clinicno assertion criteria providedLikely benign
(Mar 8, 2016)
unknownclinical testing

SCV001802571GeneDxcriteria provided, single submitter
Likely benign
(Jan 12, 2021)
germlineclinical testing

Citation Link,

SCV001961208CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Jul 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000232767.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV000802463.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001802571.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001961208.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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