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NM_024665.7(TBL1XR1):c.985A>G (p.Met329Val) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 6, 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:
RCV004729568.1

Allele description [Variation Report for NM_024665.7(TBL1XR1):c.985A>G (p.Met329Val)]

NM_024665.7(TBL1XR1):c.985A>G (p.Met329Val)

Genes:
LOC126806878:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:176755168-176756367 [Gene]
TBL1XR1:TBL1X/Y related 1 [Gene - OMIM - HGNC]
TBL1XR1-AS1:TBL1XR1 antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.32
Genomic location:
Preferred name:
NM_024665.7(TBL1XR1):c.985A>G (p.Met329Val)
HGVS:
  • NC_000003.12:g.177038375T>C
  • NG_047195.1:g.163886A>G
  • NG_083198.1:g.1096T>C
  • NM_001321193.3:c.985A>G
  • NM_001321194.3:c.985A>G
  • NM_001321195.3:c.724A>G
  • NM_001374327.1:c.985A>G
  • NM_001374328.1:c.985A>G
  • NM_001374329.1:c.985A>G
  • NM_001374330.1:c.724A>G
  • NM_024665.7:c.985A>GMANE SELECT
  • NP_001308122.1:p.Met329Val
  • NP_001308123.1:p.Met329Val
  • NP_001308124.1:p.Met242Val
  • NP_001361256.1:p.Met329Val
  • NP_001361257.1:p.Met329Val
  • NP_001361258.1:p.Met329Val
  • NP_001361259.1:p.Met242Val
  • NP_078941.2:p.Met329Val
  • NC_000003.11:g.176756163T>C
  • NM_024665.4:c.985A>G
  • NR_174966.1:n.354T>C
Protein change:
M242V
Molecular consequence:
  • NM_001321193.3:c.985A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321194.3:c.985A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321195.3:c.724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374327.1:c.985A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374328.1:c.985A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374329.1:c.985A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374330.1:c.724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024665.7:c.985A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_174966.1:n.354T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005331783GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Sep 6, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV005331783.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Oct 8, 2024