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NM_020159.5(SMARCAD1):c.1281+669G>C AND Adermatoglyphia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2014
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:
RCV000167535.5

Allele description [Variation Report for NM_020159.5(SMARCAD1):c.1281+669G>C]

NM_020159.5(SMARCAD1):c.1281+669G>C

Gene:
SMARCAD1:SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q22.3
Genomic location:
Preferred name:
NM_020159.5(SMARCAD1):c.1281+669G>C
HGVS:
  • NC_000004.12:g.94253676G>C
  • NG_031945.1:g.51069G>C
  • NM_001128429.3:c.1281+669G>C
  • NM_001128430.2:c.1281+669G>C
  • NM_001254949.2:c.-10+5G>C
  • NM_020159.5:c.1281+669G>CMANE SELECT
  • NC_000004.11:g.95174827G>C
Nucleotide change:
IVS1DS, G-C, +5
Links:
OMIM: 612761.0004; dbSNP: rs1114167277
NCBI 1000 Genomes Browser:
rs1114167277
Molecular consequence:
  • NM_001128429.3:c.1281+669G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128430.2:c.1281+669G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001254949.2:c.-10+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020159.5:c.1281+669G>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Adermatoglyphia (ADERM)
Synonyms:
FINGERPRINTS, ABSENCE OF; Isolated congenital adermatoglyphia
Identifiers:
MONDO: MONDO:0007619; MedGen: C1852150; Orphanet: 289465; OMIM: 136000; Human Phenotype Ontology: HP:0007455

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000218393OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2014) 		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

Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes.

Nousbeck J, Sarig O, Magal L, Warshauer E, Burger B, Itin P, Sprecher E.

Br J Dermatol. 2014 Dec;171(6):1521-4. doi: 10.1111/bjd.13176. Epub 2014 Oct 26.

PubMed [citation]
PMID:
24909267

Details of each submission

From OMIM, SCV000218393.3

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

Description

In an affected female member of a 4-generation family (family B) of Austrian ancestry with adermatoglyphia (ADERM; 136000), Nousbeck et al. (2014) identified heterozygosity for a G-to-C transversion in intron 1 of the SMARCAD1 gene (378+5G-C), predicted to abolish a conserved donor splice site adjacent to the 3-prime end of a noncoding exon unique to the skin-specific SMARCAD1 isoform. DNA was not available from other family members; the mutation was not found in 8,000 individual sequences from the 1000 Genomes Project and NHLBI Exome Sequencing Project databases.

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

Last Updated: Apr 23, 2022