U.S. flag

An official website of the United States government

NM_024665.7(TBL1XR1):c.1545G>A (p.Ter515=) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 1, 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:
RCV001531581.25

Allele description [Variation Report for NM_024665.7(TBL1XR1):c.1545G>A (p.Ter515=)]

NM_024665.7(TBL1XR1):c.1545G>A (p.Ter515=)

Gene:
TBL1XR1:TBL1X/Y related 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.32
Genomic location:
Preferred name:
NM_024665.7(TBL1XR1):c.1545G>A (p.Ter515=)
HGVS:
  • NC_000003.12:g.177025498C>T
  • NG_047195.1:g.176763G>A
  • NM_001321193.3:c.1545G>A
  • NM_001321194.3:c.1545G>A
  • NM_001321195.3:c.1284G>A
  • NM_001374327.1:c.1545G>A
  • NM_001374328.1:c.1545G>A
  • NM_001374329.1:c.1545G>A
  • NM_001374330.1:c.1284G>A
  • NM_024665.7:c.1545G>AMANE SELECT
  • NP_001308122.1:p.Ter515=
  • NP_001308123.1:p.Ter515=
  • NP_001308124.1:p.Ter428=
  • NP_001361256.1:p.Ter515=
  • NP_001361257.1:p.Ter515=
  • NP_001361258.1:p.Ter515=
  • NP_001361259.1:p.Ter428=
  • NP_078941.2:p.Ter515=
  • NC_000003.11:g.176743286C>T
  • NM_024665.4:c.1545G>A
Links:
dbSNP: rs371553222
NCBI 1000 Genomes Browser:
rs371553222
Molecular consequence:
  • NM_001321193.3:c.1545G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001321194.3:c.1545G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001321195.3:c.1284G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374327.1:c.1545G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374328.1:c.1545G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374329.1:c.1545G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374330.1:c.1284G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_024665.7:c.1545G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001746781CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely benign
(Mar 1, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001746781.20

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

Last Updated: Nov 10, 2024