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NM_005585.5(SMAD6):c.1034del (p.Arg345fs) AND CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO

Germline classification:
risk factor (1 submission)
Last evaluated:
Apr 19, 2017
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:
RCV000477938.1

Allele description [Variation Report for NM_005585.5(SMAD6):c.1034del (p.Arg345fs)]

NM_005585.5(SMAD6):c.1034del (p.Arg345fs)

Gene:
SMAD6:SMAD family member 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q22.31
Genomic location:
Preferred name:
NM_005585.5(SMAD6):c.1034del (p.Arg345fs)
HGVS:
  • NC_000015.10:g.66781078del
  • NG_012244.1:g.83743del
  • NG_012244.2:g.83743del
  • NM_005585.5:c.1034delMANE SELECT
  • NP_005576.3:p.Arg345fs
  • NC_000015.9:g.67073416del
  • NM_005585.4:c.1034del
  • NR_027654.2:n.2189del
Protein change:
R345fs
Links:
OMIM: 602931.0003; dbSNP: rs1085307122
NCBI 1000 Genomes Browser:
rs1085307122
Molecular consequence:
  • NM_005585.5:c.1034del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027654.2:n.2189del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO
Identifiers:
MedGen: C4479677

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000564287OMIM
no assertion criteria provided
risk factor
(Apr 19, 2017)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.

Timberlake AT, Choi J, Zaidi S, Lu Q, Nelson-Williams C, Brooks ED, Bilguvar K, Tikhonova I, Mane S, Yang JF, Sawh-Martinez R, Persing S, Zellner EG, Loring E, Chuang C, Galm A, Hashim PW, Steinbacher DM, DiLuna ML, Duncan CC, Pelphrey KA, Zhao H, et al.

Elife. 2016 Sep 8;5. doi:pii: e20125. 10.7554/eLife.20125.

PubMed [citation]
PMID:
27606499
PMCID:
PMC5045293

Details of each submission

From OMIM, SCV000564287.1

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

Description

In 2 brothers with craniosynostosis (CRS7; 617439), Timberlake et al. (2016) identified heterozygosity for a 1-bp deletion in the SMAD6 gene (c.1034delG, NM_005585), causing a frameshift predicted to result in a premature termination codon (Arg345fsTer194) within the MH2 domain. The 1-year-old brother, who had sagittal craniosynostosis, also carried the 'C' risk allele of a common variant downstream of the BMP2 gene (rs1884302; 112261.0002). His 5-year-old brother, who had metopic craniosynostosis, carried only the SMAD6 1-bp deletion, which was inherited from his unaffected father; their unaffected mother carried only the rs1884302 risk allele, as did an unaffected sister. The brothers had no other abnormalities.

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

Last Updated: Apr 23, 2022