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NM_014846.4(WASHC5):c.1345C>A (p.Arg449=) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2017
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:
RCV000626920.2

Allele description [Variation Report for NM_014846.4(WASHC5):c.1345C>A (p.Arg449=)]

NM_014846.4(WASHC5):c.1345C>A (p.Arg449=)

Gene:
WASHC5:WASH complex subunit 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.13
Genomic location:
Preferred name:
NM_014846.4(WASHC5):c.1345C>A (p.Arg449=)
HGVS:
  • NC_000008.11:g.125063585G>T
  • NG_012636.1:g.33235C>A
  • NM_001330609.2:c.901C>A
  • NM_014846.4:c.1345C>AMANE SELECT
  • NP_001317538.1:p.Arg301=
  • NP_055661.3:p.Arg449=
  • NC_000008.10:g.126075827G>T
  • NM_014846.3:c.1345C>A
Links:
dbSNP: rs886062653
NCBI 1000 Genomes Browser:
rs886062653
Molecular consequence:
  • NM_001330609.2:c.901C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_014846.4:c.1345C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Muscle weakness
Identifiers:
MedGen: C0151786; Human Phenotype Ontology: HP:0001324
Name:
Headache
Synonyms:
Headaches
Identifiers:
MedGen: C0018681; Human Phenotype Ontology: HP:0002315
Name:
Spastic gait
Identifiers:
MedGen: C0231687; Human Phenotype Ontology: HP:0002064
Name:
Loss of ambulation
Synonyms:
Loss of ability to walk
Identifiers:
MedGen: C1836843; Human Phenotype Ontology: HP:0002505
Name:
Equinovarus deformity
Identifiers:
MedGen: C4551566; Human Phenotype Ontology: HP:0008110
Name:
Stress urinary incontinence
Identifiers:
MedGen: C0042025; Human Phenotype Ontology: HP:0010992
Name:
Spastic paraplegia
Identifiers:
MedGen: C0037772; Human Phenotype Ontology: HP:0001258

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000747623Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 1, 2017) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000747623.1

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

Last Updated: Feb 28, 2024