U.S. flag

An official website of the United States government

NM_004415.4(DSP):c.3276G>C (p.Ser1092=) AND Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 18, 2023
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:
RCV003997701.2

Allele description [Variation Report for NM_004415.4(DSP):c.3276G>C (p.Ser1092=)]

NM_004415.4(DSP):c.3276G>C (p.Ser1092=)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.3276G>C (p.Ser1092=)
HGVS:
  • NC_000006.12:g.7579466G>C
  • NG_008803.1:g.42830G>C
  • NM_001008844.3:c.3276G>C
  • NM_001319034.2:c.3276G>C
  • NM_004415.3:c.3276G>C
  • NM_004415.4:c.3276G>CMANE SELECT
  • NP_001008844.1:p.Ser1092=
  • NP_001305963.1:p.Ser1092=
  • NP_004406.2:p.Ser1092=
  • LRG_423t1:c.3276G>C
  • LRG_423:g.42830G>C
  • NC_000006.11:g.7579699G>C
  • NM_004415.2:c.3276G>C
  • p.Ser1092Ser
Links:
dbSNP: rs202057409
NCBI 1000 Genomes Browser:
rs202057409
Molecular consequence:
  • NM_001008844.3:c.3276G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001319034.2:c.3276G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004415.4:c.3276G>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
7

Condition(s)

Name:
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Synonyms:
Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy; Dilated cardiomyopathy with woolly hair and keratoderma; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011581; MedGen: C1854063; Orphanet: 65282; OMIM: 605676

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004823359All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Dec 18, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown7not providednot provided108544not 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

Details of each submission

From All of Us Research Program, National Institutes of Health, SCV004823359.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided7not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided7not providednot providednot provided

Last Updated: Oct 13, 2024