NM_016373.4(WWOX):c.613C>A (p.His205Asn) AND multiple conditions

Clinical significance:Benign (Last evaluated: Dec 2, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001086032.2

Allele description [Variation Report for NM_016373.4(WWOX):c.613C>A (p.His205Asn)]

NM_016373.4(WWOX):c.613C>A (p.His205Asn)

Gene:
WWOX:WW domain containing oxidoreductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q23.1
Genomic location:
Preferred name:
NM_016373.4(WWOX):c.613C>A (p.His205Asn)
HGVS:
  • NC_000016.10:g.78424877C>A
  • NG_011698.1:g.330224C>A
  • NM_001291997.2:c.274C>A
  • NM_016373.4:c.613C>AMANE SELECT
  • NP_001278926.1:p.His92Asn
  • NP_057457.1:p.His205Asn
  • NC_000016.9:g.78458774C>A
  • NM_016373.2:c.613C>A
  • NM_016373.3:c.613C>A
Protein change:
H205N
Links:
dbSNP: rs74860463
NCBI 1000 Genomes Browser:
rs74860463
Molecular consequence:
  • NM_001291997.2:c.274C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016373.4:c.613C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epileptic encephalopathy, early infantile, 1 (DEE1)
Synonyms:
INFANTILE SPASM SYNDROME, X-LINKED 1; X-linked infantile spasms; West's syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010632; MedGen: C3463992; OMIM: 308350
Name:
Spinocerebellar ataxia, autosomal recessive 12 (SCAR12)
Synonyms:
SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
Identifiers:
MONDO: MONDO:0013687; MedGen: C3280452; Orphanet: 284282; OMIM: 614322

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000561077Invitaecriteria provided, single submitter
Benign
(Dec 2, 2020)
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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000561077.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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