NM_006361.6(HOXB13):c.314C>T (p.Thr105Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 29, 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:: RCV001018814.5

Allele description [Variation Report for NM_006361.6(HOXB13):c.314C>T (p.Thr105Ile)]

NM_006361.6(HOXB13):c.314C>T (p.Thr105Ile)

Gene:

HOXB13:homeobox B13 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.32

Genomic location:

Preferred name:

NM_006361.6(HOXB13):c.314C>T (p.Thr105Ile)

HGVS:

NC_000017.11:g.48728280G>A
NG_033789.1:g.5470C>T
NM_006361.6:c.314C>TMANE SELECT
NP_006352.2:p.Thr105Ile
LRG_771t1:c.314C>T
LRG_771:g.5470C>T
NC_000017.10:g.46805642G>A
NM_006361.5:c.314C>T

Protein change:

T105I

Links:

dbSNP: rs140492479

NCBI 1000 Genomes Browser:

rs140492479

Molecular consequence:

NM_006361.6:c.314C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001180093	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 29, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 22841674, 23064873, 28272408 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001180093

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 29, 2023)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

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

A population-based assessment of germline HOXB13 G84E mutation and prostate cancer risk.

Karlsson R, Aly M, Clements M, Zheng L, Adolfsson J, Xu J, Grönberg H, Wiklund F.

Eur Urol. 2014 Jan;65(1):169-76. doi: 10.1016/j.eururo.2012.07.027. Epub 2012 Jul 20.

PubMed [citation]

PMID:: 22841674

HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG).

Xu J, Lange EM, Lu L, Zheng SL, Wang Z, Thibodeau SN, Cannon-Albright LA, Teerlink CC, Camp NJ, Johnson AM, Zuhlke KA, Stanford JL, Ostrander EA, Wiley KE, Isaacs SD, Walsh PC, Maier C, Luedeke M, Vogel W, Schleutker J, Wahlfors T, Tammela T, et al.

Hum Genet. 2013 Jan;132(1):5-14. doi: 10.1007/s00439-012-1229-4. Epub 2012 Oct 12.

PubMed [citation]

PMID:: 23064873
PMCID:: PMC3535370

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV001180093.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The p.T105I variant (also known as c.314C>T), located in coding exon 1 of the HOXB13 gene, results from a C to T substitution at nucleotide position 314. The threonine at codon 105 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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

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