NM_001374736.1(DST):c.15028C>G (p.Leu5010Val) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 12, 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:: RCV001889385.5

Allele description [Variation Report for NM_001374736.1(DST):c.15028C>G (p.Leu5010Val)]

NM_001374736.1(DST):c.15028C>G (p.Leu5010Val)

Gene:

DST:dystonin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p12.1

Genomic location:

Preferred name:

NM_001374736.1(DST):c.15028C>G (p.Leu5010Val)

HGVS:

NC_000006.12:g.56555453G>C
NG_029322.2:g.404176C>G
NM_001144769.5:c.8671C>G
NM_001144770.2:c.8257C>G
NM_001374722.1:c.15028C>G
NM_001374729.1:c.14395C>G
NM_001374730.1:c.8137C>G
NM_001374734.1:c.15055C>G
NM_001374736.1:c.15028C>GMANE SELECT
NM_001386100.1:c.8137C>G
NM_015548.5:c.7159C>G
NM_183380.4:c.8137C>G
NP_001138241.1:p.Leu2891Val
NP_001138242.1:p.Leu2753Val
NP_001361651.1:p.Leu5010Val
NP_001361658.1:p.Leu4799Val
NP_001361659.1:p.Leu2713Val
NP_001361663.1:p.Leu5019Val
NP_001361665.1:p.Leu5010Val
NP_001373029.1:p.Leu2713Val
NP_056363.2:p.Leu2387Val
NP_899236.1:p.Leu2713Val
NC_000006.11:g.56420251G>C

Protein change:

L2387V

Links:

dbSNP: rs2152559713

NCBI 1000 Genomes Browser:

rs2152559713

Molecular consequence:

NM_001144769.5:c.8671C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001144770.2:c.8257C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374722.1:c.15028C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374729.1:c.14395C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374730.1:c.8137C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374734.1:c.15055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374736.1:c.15028C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386100.1:c.8137C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_015548.5:c.7159C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_183380.4:c.8137C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary sensory and autonomic neuropathy type 6
Synonyms:: HSAN VI; Neuropathy, hereditary sensory and autonomic, type VI
Identifiers:: MONDO: MONDO:0013839; MedGen: C3539003; Orphanet: 314381; OMIM: 614653

Name:: Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency (EBS3)
Synonyms:: Epidermolysis bullosa simplex, autosomal recessive 2; Epidermolysis bullosa simplex due to BP230 deficiency
Identifiers:: MONDO: MONDO:0014180; MedGen: C3809470; Orphanet: 412181; OMIM: 615425

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002160622	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 12, 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

SCV002160622

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 12, 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):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV002160622.3

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with DST-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2387 of the DST protein (p.Leu2387Val). The DST gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_015548.4, and corresponds to NM_001723.5:c.*60064C>G in the primary transcript.

#	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: Feb 28, 2024

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