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NM_004415.4(DSP):c.7893C>T (p.Ile2631=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 19, 2021
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:
RCV002418638.2

Allele description [Variation Report for NM_004415.4(DSP):c.7893C>T (p.Ile2631=)]

NM_004415.4(DSP):c.7893C>T (p.Ile2631=)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.7893C>T (p.Ile2631=)
HGVS:
  • NC_000006.12:g.7585155C>T
  • NG_008803.1:g.48519C>T
  • NM_001008844.3:c.6096C>T
  • NM_001319034.2:c.6564C>T
  • NM_004415.3:c.7893C>T
  • NM_004415.4:c.7893C>TMANE SELECT
  • NP_001008844.1:p.Ile2032=
  • NP_001305963.1:p.Ile2188=
  • NP_004406.2:p.Ile2631=
  • LRG_423t1:c.7893C>T
  • LRG_423:g.48519C>T
  • NC_000006.11:g.7585388C>T
  • NM_004415.2:c.7893C>T
Links:
dbSNP: rs778552693
NCBI 1000 Genomes Browser:
rs778552693
Molecular consequence:
  • NM_001008844.3:c.6096C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001319034.2:c.6564C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004415.4:c.7893C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002681074Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 19, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002681074.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024