NM_004415.4(DSP):c.3512T>C (p.Ile1171Thr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 20, 2020
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:: RCV001770214.2

Allele description [Variation Report for NM_004415.4(DSP):c.3512T>C (p.Ile1171Thr)]

NM_004415.4(DSP):c.3512T>C (p.Ile1171Thr)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.3512T>C (p.Ile1171Thr)

HGVS:

NC_000006.12:g.7579702T>C
NG_008803.1:g.43066T>C
NM_001008844.3:c.3512T>C
NM_001319034.2:c.3512T>C
NM_004415.4:c.3512T>CMANE SELECT
NP_001008844.1:p.Ile1171Thr
NP_001305963.1:p.Ile1171Thr
NP_004406.2:p.Ile1171Thr
LRG_423t1:c.3512T>C
LRG_423:g.43066T>C
NC_000006.11:g.7579935T>C
NM_004415.2:c.3512T>C

Protein change:

I1171T

Links:

dbSNP: rs762449180

NCBI 1000 Genomes Browser:

rs762449180

Molecular consequence:

NM_001008844.3:c.3512T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001319034.2:c.3512T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004415.4:c.3512T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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PODANS_5_1200 [Podospora anserina S mat+]
PODANS_5_1200 [Podospora anserina S mat+]
Gene ID:6188456

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002002262	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jan 20, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002002262

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jan 20, 2020)

germline

clinical testing

Citation Link

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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, SCV002002262.2

#	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; Reported in ClinVar as a variant of uncertain significance but additional evidence is not available (ClinVar Variant ID# 246662; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31983221)

#	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: Sep 29, 2024

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