U.S. flag

An official website of the United States government

NM_006361.6(HOXB13):c.436G>A (p.Val146Met) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 17, 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:
RCV000567230.3

Allele description [Variation Report for NM_006361.6(HOXB13):c.436G>A (p.Val146Met)]

NM_006361.6(HOXB13):c.436G>A (p.Val146Met)

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.436G>A (p.Val146Met)
Other names:
p.V146M:GTG>ATG
HGVS:
  • NC_000017.11:g.48728158C>T
  • NG_033789.1:g.5592G>A
  • NM_006361.6:c.436G>AMANE SELECT
  • NP_006352.2:p.Val146Met
  • NP_006352.2:p.Val146Met
  • LRG_771t1:c.436G>A
  • LRG_771:g.5592G>A
  • LRG_771p1:p.Val146Met
  • NC_000017.10:g.46805520C>T
  • NM_006361.5:c.436G>A
Protein change:
V146M
Links:
dbSNP: rs587780162
NCBI 1000 Genomes Browser:
rs587780162
Molecular consequence:
  • NM_006361.6:c.436G>A - 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

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
SCV000669478Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 17, 2023) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Computational Modeling of complete HOXB13 protein for predicting the functional effect of SNPs and the associated role in hereditary prostate cancer.

Chandrasekaran G, Hwang EC, Kang TW, Kwon DD, Park K, Lee JJ, Lakshmanan VK.

Sci Rep. 2017 Mar 8;7:43830. doi: 10.1038/srep43830.

PubMed [citation]
PMID:
28272408
PMCID:
PMC5363706

Details of each submission

From Ambry Genetics, SCV000669478.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.V146M variant (also known as c.436G>A), located in coding exon 1 of the HOXB13 gene, results from a G to A substitution at nucleotide position 436. The valine at codon 146 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is well 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024