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NM_000193.4(SHH):c.1282del (p.Ala428fs) AND Acrocallosal syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 18, 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:
RCV000611237.2

Allele description [Variation Report for NM_000193.4(SHH):c.1282del (p.Ala428fs)]

NM_000193.4(SHH):c.1282del (p.Ala428fs)

Gene:
SHH:sonic hedgehog signaling molecule [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q36.3
Genomic location:
Preferred name:
NM_000193.4(SHH):c.1282del (p.Ala428fs)
HGVS:
  • NC_000007.14:g.155803011del
  • NG_007504.2:g.14267del
  • NM_000193.4:c.1282delMANE SELECT
  • NM_001310462.2:c.302-2762del
  • NP_000184.1:p.Ala428fs
  • NC_000007.13:g.155595705del
  • NM_000193.2:c.1282delG
Protein change:
A428fs
Links:
dbSNP: rs1554493617
NCBI 1000 Genomes Browser:
rs1554493617
Molecular consequence:
  • NM_000193.4:c.1282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001310462.2:c.302-2762del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Acrocallosal syndrome (ACLS)
Synonyms:
HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM; Acrocallosal syndrome, Schinzel type; Schinzel syndrome 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008708; MedGen: C0796147; Orphanet: 36; OMIM: 200990

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000579219Institute of Medical Genetics, University of Zurich
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 18, 2017) 		de novoclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.

Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, et al.

Eur J Hum Genet. 2018 Feb;26(2):197-209. doi: 10.1038/s41431-017-0019-9. Epub 2018 Jan 10.

PubMed [citation]
PMID:
29321670
PMCID:
PMC5839020

Details of each submission

From Institute of Medical Genetics, University of Zurich, SCV000579219.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022