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NM_004415.4(DSP):c.5707C>A (p.Gln1903Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 3, 2016
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:
RCV000181263.1

Allele description [Variation Report for NM_004415.4(DSP):c.5707C>A (p.Gln1903Lys)]

NM_004415.4(DSP):c.5707C>A (p.Gln1903Lys)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.5707C>A (p.Gln1903Lys)
Other names:
p.Q1903K:CAA>AAA
HGVS:
  • NC_000006.12:g.7582969C>A
  • NG_008803.1:g.46333C>A
  • NM_001008844.3:c.3910C>A
  • NM_001319034.2:c.4378C>A
  • NM_004415.4:c.5707C>AMANE SELECT
  • NP_001008844.1:p.Gln1304Lys
  • NP_001305963.1:p.Gln1460Lys
  • NP_004406.2:p.Gln1903Lys
  • LRG_423t1:c.5707C>A
  • LRG_423:g.46333C>A
  • NC_000006.11:g.7583202C>A
  • NM_004415.2:c.5707C>A
Protein change:
Q1304K
Links:
dbSNP: rs794728103
NCBI 1000 Genomes Browser:
rs794728103
Molecular consequence:
  • NM_001008844.3:c.3910C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319034.2:c.4378C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.5707C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000233548GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Feb 3, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000233548.12

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

Description

The Q1903K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Q1903K variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Q1903K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. However, in silico analysis predicts this variant likely does not alter the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign. This result cannot be interpreted for diagnosis or used for family member screening at this time.

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

Last Updated: Sep 29, 2024