NM_000522.5(HOXA13):c.366_389dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAla) 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:: RCV000016020.27

Allele description [Variation Report for NM_000522.5(HOXA13):c.366_389dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAla)]

NM_000522.5(HOXA13):c.366_389dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAla)

Genes:

LOC107126288:NUP98-HOXA13 recombination region [Gene]
HOXA13:homeobox A13 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

7p15.2

Genomic location:

Preferred name:

NM_000522.5(HOXA13):c.366_389dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAla)

HGVS:

NC_000007.14:g.27199694_27199717dup
NG_008181.2:g.5395_5418dup
NG_046623.1:g.1352_1375dup
NM_000522.5:c.366_389dupMANE SELECT
NP_000513.2:p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAla
LRG_1349t1:c.366_389dup
LRG_1349:g.5395_5418dup
LRG_1349p1:p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAla
NC_000007.13:g.27239313_27239336dup

Note:

NCBI staff provided HGVS expressions for allelic variant 142959.0003 based on the description in the paper by Goodman et al., 2000 (PubMed 10839976) "...24-bp in-frame insertion in exon 1 after base 387 (fig. 4A). This insertion occurs in a stretch of 18 imperfect trinucleotide repeats encoding the third of three N-terminal polyalanine tracts. It probably arose by duplication of repeats 7–14..."

Links:

OMIM: 142959.0003

Molecular consequence:

NM_000522.5:c.366_389dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036287	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 2000)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 2774004, 1442892, 10839976 Elias, S., Simpson, J. L., Feingold, M., Sarto, G. E. The hand-foot-uterus syndrome: a rare autosomal dominant disorder. Fertil. Steril. 29: 239-240, 1978.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036287

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 2000)

germline

literature only

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

Elias, S., Simpson, J. L., Feingold, M., Sarto, G. E. The hand-foot-uterus syndrome: a rare autosomal dominant disorder. Fertil. Steril. 29: 239-240, 1978.

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Urinary tract abnormalities in hand-foot-genital syndrome.

Verp MS.

Am J Med Genet. 1989 Apr;32(4):555. No abstract available.

PubMed [citation]

PMID:: 2774004

Update on a family with hand-foot-genital syndrome: hypospadias and urinary tract abnormalities in two boys from the fourth generation.

Donnenfeld AE, Schrager DS, Corson SL.

Am J Med Genet. 1992 Nov 1;44(4):482-4.

PubMed [citation]

PMID:: 1442892

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000036287.3

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

Description

In the family with hand-foot-genital syndrome (HFG; 140000) in multiple generations reported by Elias et al. (1978), Verp (1989), and Donnenfeld et al. (1992), Goodman et al. (2000) found that affected members were heterozygous for a 24-bp in-frame insertion in exon 1 at nucleotide 387 of the HOXA13 gene. This insertion occurred in a stretch of 18 imperfect trinucleotide repeats encoding the third of 3 N-terminal polyalanine tracts. It probably had arisen by duplication of repeats 7-14 and expanded the tract from 18 to 26 alanines (8-alanine expansion).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 1, 2022

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