NM_001258221.1(KCTD1):c.89C>A (p.Ala30Glu) AND Scalp ear nipple syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 29, 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:: RCV000049292.3

Allele description

NM_001258221.1(KCTD1):c.89C>A (p.Ala30Glu)

Gene:

KCTD1:potassium channel tetramerization domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q11.2

Genomic location:

Preferred name:

NM_001258221.1(KCTD1):c.89C>A (p.Ala30Glu)

HGVS:

NC_000018.10:g.26501147G>T
NM_001258221.1:c.89C>A
NP_001245150.1:p.Ala30Glu
NC_000018.9:g.24081111G>T
Q719H9:p.Ala30Glu

Protein change:

A30E; ALA30GLU

Links:

UniProtKB: Q719H9#VAR_069971; OMIM: 613420.0001; dbSNP: rs587776998

NCBI 1000 Genomes Browser:

rs587776998

Molecular consequence:

NM_001258221.1:c.89C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Scalp ear nipple syndrome (SENS)
Identifiers:: MedGen: C1867020; Orphanet: 2036; OMIM: 181270
Age of onset:: Childhood
Prevalence:: <1 / 1 000 000 2036

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000077549	OMIM	no assertion criteria provided	Pathogenic (Apr 4, 2013)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 8042668, 23541344
SCV000281691	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Pathogenic (Jan 29, 2014)	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000077549

OMIM

no assertion criteria provided

Pathogenic
(Apr 4, 2013)

germline

literature only

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

SCV000281691

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Pathogenic
(Jan 29, 2014)

inherited

research

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

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
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Scalp-ear-nipple syndrome: additional manifestations.

Edwards MJ, McDonald D, Moore P, Rae J.

Am J Med Genet. 1994 Apr 15;50(3):247-50.

PubMed [citation]

PMID:: 8042668

Mutations in KCTD1 cause scalp-ear-nipple syndrome.

Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, de Macena Sobreira NL, Perez AB, Fortes JA, Lampe AK, Giovannucci Uzielli ML, Gordon CT, Plessis G, Le Merrer M, Amiel J, Reichenberger E, Shively KM, Cerrato F, Labow BI, Tabor HK, Smith JD, Shendure J, et al.

Am J Hum Genet. 2013 Apr 4;92(4):621-6. doi: 10.1016/j.ajhg.2013.03.002. Epub 2013 Mar 28.

PubMed [citation]

PMID:: 23541344
PMCID:: PMC3617379

Details of each submission

From OMIM, SCV000077549.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In 12 affected individuals from a large 4-generation family of European ancestry with scalp-ear-nipple syndrome (SENS; 181270), originally described by Edwards et al. (1994), Marneros et al. (2013) identified heterozygosity for a c.89C-A transversion in exon 2 of the KCTD1 gene, resulting in an ala30-to-glu (A30E) substitution at a highly conserved residue in a BTB domain. The mutation segregated with disease in the family and was not found in more than 13,000 chromosomes in the NHLBI Exome Sequencing Project.

#	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

From University of Washington Center for Mendelian Genomics, University of Washington, SCV000281691.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

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

Last Updated: Dec 6, 2016

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