NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 1, 2022
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:: RCV003151011.2

Allele description [Variation Report for NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys)]

NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys)

Gene:

TBX15:T-box transcription factor 15 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p12

Genomic location:

Preferred name:

NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys)

HGVS:

NC_000001.11:g.118885216C>T
NG_013361.1:g.109341G>A
NM_001330677.2:c.1325G>AMANE SELECT
NM_152380.2:c.1007G>A
NM_152380.3:c.1007G>A
NP_001317606.1:p.Arg442Lys
NP_689593.2:p.Arg336Lys
NC_000001.10:g.119427839C>T
NM_152380.3:c.1007G>A

Protein change:

R336K

Links:

dbSNP: rs144291418

NCBI 1000 Genomes Browser:

rs144291418

Molecular consequence:

NM_001330677.2:c.1325G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_152380.3:c.1007G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003840101	Genetic Services Laboratory, University of Chicago	no assertion criteria provided	Uncertain significance (Aug 1, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003840101

Genetic Services Laboratory, University of Chicago

no assertion criteria provided

Uncertain significance
(Aug 1, 2022)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV003840101.1

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

Description

DNA sequence analysis of the TBX15 gene demonstrated a sequence change, c.1007G>A, in exon 8 that results in an amino acid change, p.Arg336Lys. This sequence change does not appear to have been previously described in individuals with TBX15-related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.53% in the Ashkenazi Jewish subpopulation, and 0.085% in the overall population (dbSNP rs144291418). The p.Arg336Lys change affects a highly conserved amino acid residue located in a domain of the TBX15 protein that is not known to be functional. The p.Arg336Lys substitution appears to be deleterious using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL).. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Arg336Lys change remains unknown at this time.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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