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NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser) AND Hereditary sensory and autonomic neuropathy type 6

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 2, 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:
RCV000625438.10

Allele description [Variation Report for NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser)]

NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser)

Gene:
DST:dystonin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p12.1
Genomic location:
Preferred name:
NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser)
HGVS:
  • NC_000006.12:g.56493046T>C
  • NG_029322.2:g.466583A>G
  • NM_001144769.5:c.14081A>G
  • NM_001144770.2:c.13667A>G
  • NM_001374722.1:c.20438A>G
  • NM_001374729.1:c.19478A>G
  • NM_001374730.1:c.13220A>G
  • NM_001374734.1:c.20465A>G
  • NM_001374736.1:c.20438A>GMANE SELECT
  • NM_001386100.1:c.13547A>G
  • NM_015548.5:c.12569A>G
  • NM_183380.4:c.13547A>G
  • NP_001138241.1:p.Asn4694Ser
  • NP_001138242.1:p.Asn4556Ser
  • NP_001361651.1:p.Asn6813Ser
  • NP_001361658.1:p.Asn6493Ser
  • NP_001361659.1:p.Asn4407Ser
  • NP_001361663.1:p.Asn6822Ser
  • NP_001361665.1:p.Asn6813Ser
  • NP_001373029.1:p.Asn4516Ser
  • NP_056363.2:p.Asn4190Ser
  • NP_899236.1:p.Asn4516Ser
  • NC_000006.11:g.56357844T>C
  • NM_001144769.2:c.14081A>G
  • NM_001723.5:c.*122471A>G
  • NM_015548.4:c.12569A>G
Protein change:
N4190S
Links:
dbSNP: rs199628430
NCBI 1000 Genomes Browser:
rs199628430
Molecular consequence:
  • NM_001144769.5:c.14081A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144770.2:c.13667A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374722.1:c.20438A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374729.1:c.19478A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374730.1:c.13220A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374734.1:c.20465A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374736.1:c.20438A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386100.1:c.13547A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015548.5:c.12569A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183380.4:c.13547A>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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000745355Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus
criteria provided, single submitter

(ACGS Guidelines, 2013)
Uncertain significance
(May 2, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000745355.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2024