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NM_006361.6(HOXB13):c.277T>G (p.Ser93Ala) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 3, 2017
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:
RCV000561971.3

Allele description [Variation Report for NM_006361.6(HOXB13):c.277T>G (p.Ser93Ala)]

NM_006361.6(HOXB13):c.277T>G (p.Ser93Ala)

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.277T>G (p.Ser93Ala)
HGVS:
  • NC_000017.11:g.48728317A>C
  • NG_033789.1:g.5433T>G
  • NM_006361.6:c.277T>GMANE SELECT
  • NP_006352.2:p.Ser93Ala
  • NP_006352.2:p.Ser93Ala
  • LRG_771t1:c.277T>G
  • LRG_771:g.5433T>G
  • LRG_771p1:p.Ser93Ala
  • NC_000017.10:g.46805679A>C
  • NM_006361.5:c.277T>G
Protein change:
S93A
Links:
dbSNP: rs780012601
NCBI 1000 Genomes Browser:
rs780012601
Molecular consequence:
  • NM_006361.6:c.277T>G - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000669477Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 3, 2017) 		germlineclinical testing

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

Citation Link

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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, SCV000669477.5

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

Description

The p.S93A variant (also known as c.277T>G), located in coding exon 1 of the HOXB13 gene, results from a T to G substitution at nucleotide position 277. The serine at codon 93 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. In addition, this alteration was predicted to be probably benign and neutral by four additional prediction models (Chandrasekaran G et al. Sci Rep, 2017 Mar;7:43830). 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: Oct 8, 2024