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NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn) AND Pierpont syndrome

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003224873.3

Allele description

NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn)

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.1108G>A (p.Asp370Asn)
HGVS:
  • NC_000003.12:g.177038112C>T
  • NG_047195.1:g.164149G>A
  • NM_001321193.3:c.1108G>A
  • NM_001321194.3:c.1108G>A
  • NM_001321195.3:c.847G>A
  • NM_001374327.1:c.1108G>A
  • NM_001374328.1:c.1108G>A
  • NM_001374329.1:c.1108G>A
  • NM_001374330.1:c.847G>A
  • NM_024665.7:c.1108G>AMANE SELECT
  • NP_001308122.1:p.Asp370Asn
  • NP_001308123.1:p.Asp370Asn
  • NP_001308124.1:p.Asp283Asn
  • NP_001361256.1:p.Asp370Asn
  • NP_001361257.1:p.Asp370Asn
  • NP_001361258.1:p.Asp370Asn
  • NP_001361259.1:p.Asp283Asn
  • NP_078941.2:p.Asp370Asn
  • NC_000003.11:g.176755900C>T
  • NM_024665.4:c.1108G>A
  • NM_024665.6:c.1108G>A
Protein change:
D283N
Links:
dbSNP: rs1057517933
NCBI 1000 Genomes Browser:
rs1057517933
Molecular consequence:
  • NM_001321193.3:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321194.3:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321195.3:c.847G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374327.1:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374328.1:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374329.1:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374330.1:c.847G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024665.7:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pierpont syndrome (PRPTS)
Identifiers:
MONDO: MONDO:0011213; MedGen: C1865644; OMIM: 602342

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003920730School of Pediatrics, Henan University of Chinese Medicine, Henan University Of Chinese Medicine
no assertion criteria provided
Pathogenicde novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From School of Pediatrics, Henan University of Chinese Medicine, Henan University Of Chinese Medicine, SCV003920730.1

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

Last Updated: Jun 17, 2024