NM_004415.4(DSP):c.3139G>C (p.Ala1047Pro) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 25, 2019
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:: RCV001767647.2

Allele description [Variation Report for NM_004415.4(DSP):c.3139G>C (p.Ala1047Pro)]

NM_004415.4(DSP):c.3139G>C (p.Ala1047Pro)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.3139G>C (p.Ala1047Pro)

HGVS:

NC_000006.12:g.7579329G>C
NG_008803.1:g.42693G>C
NM_001008844.3:c.3139G>C
NM_001319034.2:c.3139G>C
NM_004415.4:c.3139G>CMANE SELECT
NP_001008844.1:p.Ala1047Pro
NP_001305963.1:p.Ala1047Pro
NP_004406.2:p.Ala1047Pro
LRG_423t1:c.3139G>C
LRG_423:g.42693G>C
NC_000006.11:g.7579562G>C
NM_004415.2:c.3139G>C

Protein change:

A1047P

Links:

dbSNP: rs2113691153

NCBI 1000 Genomes Browser:

rs2113691153

Molecular consequence:

NM_001008844.3:c.3139G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001319034.2:c.3139G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004415.4:c.3139G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001998559	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Nov 25, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001998559

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Nov 25, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001998559.2

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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

Last Updated: Dec 24, 2023

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