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NM_000522.5(HOXA13):c.1114A>C (p.Asn372His) AND Hand-foot-genital syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2000
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:
RCV000016021.23

Allele description [Variation Report for NM_000522.5(HOXA13):c.1114A>C (p.Asn372His)]

NM_000522.5(HOXA13):c.1114A>C (p.Asn372His)

Gene:
HOXA13:homeobox A13 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p15.2
Genomic location:
Preferred name:
NM_000522.5(HOXA13):c.1114A>C (p.Asn372His)
Other names:
N51H
HGVS:
  • NC_000007.14:g.27198251T>G
  • NG_008181.1:g.6856A>C
  • NG_008181.2:g.6856A>C
  • NM_000522.5:c.1114A>CMANE SELECT
  • NP_000513.2:p.Asn372His
  • LRG_1349t1:c.1114A>C
  • LRG_1349:g.6856A>C
  • LRG_1349p1:p.Asn372His
  • NC_000007.13:g.27237870T>G
  • P31271:p.Asn372His
Protein change:
N372H; ASN51HIS
Links:
UniProtKB: P31271#VAR_017776; OMIM: 142959.0004; dbSNP: rs121912542
NCBI 1000 Genomes Browser:
rs121912542
Molecular consequence:
  • NM_000522.5:c.1114A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hand-foot-genital syndrome (HFGS)
Synonyms:
Hand foot uterus syndrome; HFU syndrome; HFG syndrome
Identifiers:
MONDO: MONDO:0007698; MedGen: C1841679; OMIM: 140000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036288OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2000) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.

Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ.

Am J Hum Genet. 2000 Jul;67(1):197-202. Epub 2000 Jun 5.

PubMed [citation]
PMID:
10839976
PMCID:
PMC1287077

Details of each submission

From OMIM, SCV000036288.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an isolated case of hand-foot-genital syndrome (HFG; 140000), Goodman et al. (2000) identified a heterozygous A-to-C substitution in exon 2 at nucleotide 1114 of the HOXA13 gene, resulting in an asp51-to-his amino acid substitution. The affected individual had severe hand and foot abnormalities, including extremely short thumbs, absent halluces, and marked hypoplasia of all middle phalanges, as well as glanular hypospadias. The authors stated that this was the first missense mutation identified in a human HOX protein.

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

Last Updated: Apr 23, 2022