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NG_011735.4:g.308479_308480insAlu308464_308481dup AND Branchiootorenal syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 1997
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:
RCV000008395.3

Allele description [Variation Report for NG_011735.4:g.308479_308480insAlu308464_308481dup]

NM_001370334.1:c.1128_1129insAlu1113_1130dup

Gene:
EYA1:EYA transcriptional coactivator and phosphatase 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
8q13.3
Preferred name:
NM_001370334.1:c.1128_1129insAlu1113_1130dup
HGVS:
  • NG_011735.4:g.308479_308480insAlu308464_308481dup
  • NM_001370334.1:c.1128_1129insAlu1113_1130dup
Note:
NCBI staff provided HGVS-like expressions for the insertion of the Alu element flanked by a direct repeat from the sequence in Figure 3 of the paper by Abdelhak et al., 1997 (PubMed 9361030). The different numbering of exons in the RefSeqGene record NG_011735.4 was verified by localizing the exon-specific primers in the same paper.
Nucleotide change:
ALU INS, EX10
Links:
OMIM: 601653.0005

Condition(s)

Name:
Branchiootorenal syndrome 1
Identifiers:
MONDO: MONDO:0007236; MedGen: C4551702; Orphanet: 107; OMIM: 113650

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028603OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 1997) 		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

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.

Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Levi-Acobas F, Cruaud C, Le Merrer M, Mathieu M, König R, Vigneron J, Weissenbach J, Petit C, Weil D.

Hum Mol Genet. 1997 Dec;6(13):2247-55.

PubMed [citation]
PMID:
9361030

Details of each submission

From OMIM, SCV000028603.2

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

Description

In a mother and daughter with BOR syndrome (BOR1; 113650), Abdelhak et al. (1997) demonstrated that the EYA1 gene carried an inserted Alu element in exon 10. The inserted element was in opposite orientation to that of the gene itself, and the 3-prime sequence of the Alu element was followed by a long poly(A) tail. The features were entirely consistent with retrotransposition. A difference in length of the poly(A) tail, which was reduced from poly(A)97 to poly(A)31 when transmitted from mother to daughter, demonstrated instability. The transposition was a de novo insertion as it was not present in the DNA from the maternal grandparents.

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

Last Updated: Feb 20, 2024