NM_004415.4(DSP):c.7701C>G (p.Val2567=) AND multiple conditions

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 4, 2022
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:: RCV003015982.3

Allele description [Variation Report for NM_004415.4(DSP):c.7701C>G (p.Val2567=)]

NM_004415.4(DSP):c.7701C>G (p.Val2567=)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.7701C>G (p.Val2567=)

HGVS:

NC_000006.12:g.7584963C>G
NG_008803.1:g.48327C>G
NM_001008844.3:c.5904C>G
NM_001319034.2:c.6372C>G
NM_004415.4:c.7701C>GMANE SELECT
NP_001008844.1:p.Val1968=
NP_001305963.1:p.Val2124=
NP_004406.2:p.Val2567=
NP_004406.2:p.Val2567=
LRG_423t1:c.7701C>G
LRG_423:g.48327C>G
LRG_423p1:p.Val2567=
NC_000006.11:g.7585196C>G
NM_004415.2:c.7701C>G

Molecular consequence:

NM_001008844.3:c.5904C>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001319034.2:c.6372C>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_004415.4:c.7701C>G - synonymous variant - [Sequence Ontology: SO:0001819]

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

Name:: Arrhythmogenic right ventricular dysplasia 8 (ARVD8)
Synonyms:: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; Arrhythmogenic right ventricular cardiomyopathy, type 8; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8
Identifiers:: MONDO: MONDO:0011831; MedGen: C1843896; OMIM: 607450

Recent activity

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Rattus norvegicus spermatid perinuclear RNA binding protein (Strbp), transcript ...
Rattus norvegicus spermatid perinuclear RNA binding protein (Strbp), transcript variant 3, mRNA
gi|2719984937|ref|NM_001429553.1|

Nucleotide
Apogoninae 12S ribosomal RNA gene, partial sequence; tRNA-Val gene, complete seq...
Apogoninae 12S ribosomal RNA gene, partial sequence; tRNA-Val gene, complete sequence; and 16S ribosomal RNA gene, partial sequence; mitochondrial.
PopSet: 2021361566

PopSet
Clupeocephala cytochrome c oxidase subunit I gene, partial cds; mitochondrial.
Clupeocephala cytochrome c oxidase subunit I gene, partial cds; mitochondrial.
PopSet: 2047394660

PopSet
interleukin-6 receptor subunit alpha isoform 2 precursor [Homo sapiens]
interleukin-6 receptor subunit alpha isoform 2 precursor [Homo sapiens]
gi|31317249|ref|NP_852004.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003312724	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Aug 4, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003312724

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Aug 4, 2022)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003312724.2

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

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

Last Updated: Sep 29, 2024

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