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NM_001374736.1(DST):c.17894A>C (p.Glu5965Ala) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 2, 2024
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:
RCV002037357.3

Allele description [Variation Report for NM_001374736.1(DST):c.17894A>C (p.Glu5965Ala)]

NM_001374736.1(DST):c.17894A>C (p.Glu5965Ala)

Gene:
DST:dystonin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p12.1
Genomic location:
Preferred name:
NM_001374736.1(DST):c.17894A>C (p.Glu5965Ala)
HGVS:
  • NC_000006.12:g.56527521T>G
  • NG_029322.2:g.432108A>C
  • NM_001144769.5:c.11537A>C
  • NM_001144770.2:c.11123A>C
  • NM_001374722.1:c.17894A>C
  • NM_001374729.1:c.16934A>C
  • NM_001374730.1:c.10676A>C
  • NM_001374734.1:c.17921A>C
  • NM_001374736.1:c.17894A>CMANE SELECT
  • NM_001386100.1:c.11003A>C
  • NM_015548.5:c.10025A>C
  • NM_183380.4:c.11003A>C
  • NP_001138241.1:p.Glu3846Ala
  • NP_001138242.1:p.Glu3708Ala
  • NP_001361651.1:p.Glu5965Ala
  • NP_001361658.1:p.Glu5645Ala
  • NP_001361659.1:p.Glu3559Ala
  • NP_001361663.1:p.Glu5974Ala
  • NP_001361665.1:p.Glu5965Ala
  • NP_001373029.1:p.Glu3668Ala
  • NP_056363.2:p.Glu3342Ala
  • NP_899236.1:p.Glu3668Ala
  • NC_000006.11:g.56392319T>G
  • NM_001144769.2:c.11537A>C
Protein change:
E3342A
Links:
dbSNP: rs753007435
NCBI 1000 Genomes Browser:
rs753007435
Molecular consequence:
  • NM_001144769.5:c.11537A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144770.2:c.11123A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374722.1:c.17894A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374729.1:c.16934A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374730.1:c.10676A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374734.1:c.17921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374736.1:c.17894A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386100.1:c.11003A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015548.5:c.10025A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183380.4:c.11003A>C - 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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002115813Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Jan 2, 2024)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV002115813.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The DST gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_015548.4, and corresponds to NM_001723.5:c.*87996A>C in the primary transcript. This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 3342 of the DST protein (p.Glu3342Ala). This variant is present in population databases (rs753007435, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with DST-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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

Last Updated: May 1, 2024