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NM_198994.3(TGM6):c.1179G>A (p.Ala393=) AND Spinocerebellar ataxia type 35

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 18, 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:
RCV003448607.1

Allele description [Variation Report for NM_198994.3(TGM6):c.1179G>A (p.Ala393=)]

NM_198994.3(TGM6):c.1179G>A (p.Ala393=)

Gene:
TGM6:transglutaminase 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p13
Genomic location:
Preferred name:
NM_198994.3(TGM6):c.1179G>A (p.Ala393=)
HGVS:
  • NC_000020.11:g.2403666G>A
  • NG_031917.1:g.27759G>A
  • NM_001254734.2:c.1179G>A
  • NM_198994.3:c.1179G>AMANE SELECT
  • NP_001241663.1:p.Ala393=
  • NP_945345.2:p.Ala393=
  • NC_000020.10:g.2384312G>A
  • NM_198994.2:c.1179G>A
Molecular consequence:
  • NM_001254734.2:c.1179G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198994.3:c.1179G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

Condition(s)

Name:
Spinocerebellar ataxia type 35
Identifiers:
MONDO: MONDO:0013485; MedGen: C3888031; Orphanet: 276193; OMIM: 613908

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004176135New York Genome Center
criteria provided, single submitter

(NYGC Assertion Criteria 2020)
Uncertain significance
(Aug 18, 2023)
inheritedclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown2not providednot provided2not providedclinical testing

Details of each submission

From New York Genome Center, SCV004176135.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided
2inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024