NM_024665.7(TBL1XR1):c.1085A>G (p.Asn362Ser) AND Pierpont syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 23, 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:: RCV002979626.3

Allele description [Variation Report for NM_024665.7(TBL1XR1):c.1085A>G (p.Asn362Ser)]

NM_024665.7(TBL1XR1):c.1085A>G (p.Asn362Ser)

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.1085A>G (p.Asn362Ser)

HGVS:

NC_000003.12:g.177038135T>C
NG_047195.1:g.164126A>G
NG_083198.1:g.856T>C
NM_001321193.3:c.1085A>G
NM_001321194.3:c.1085A>G
NM_001321195.3:c.824A>G
NM_001374327.1:c.1085A>G
NM_001374328.1:c.1085A>G
NM_001374329.1:c.1085A>G
NM_001374330.1:c.824A>G
NM_024665.7:c.1085A>GMANE SELECT
NP_001308122.1:p.Asn362Ser
NP_001308123.1:p.Asn362Ser
NP_001308124.1:p.Asn275Ser
NP_001361256.1:p.Asn362Ser
NP_001361257.1:p.Asn362Ser
NP_001361258.1:p.Asn362Ser
NP_001361259.1:p.Asn275Ser
NP_078941.2:p.Asn362Ser
NC_000003.11:g.176755923T>C

Protein change:

N275S

Molecular consequence:

NM_001321193.3:c.1085A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001321194.3:c.1085A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001321195.3:c.824A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374327.1:c.1085A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374328.1:c.1085A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374329.1:c.1085A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374330.1:c.824A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_024665.7:c.1085A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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zinc finger protein 527 isoform X2 [Homo sapiens]
zinc finger protein 527 isoform X2 [Homo sapiens]
gi|530417401|ref|XP_005259385.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003296914	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Apr 23, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003296914

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Apr 23, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003296914.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TBL1XR1 protein function. ClinVar contains an entry for this variant (Variation ID: 2081079). This variant has not been reported in the literature in individuals affected with TBL1XR1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 362 of the TBL1XR1 protein (p.Asn362Ser).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine