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NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) AND Intellectual disability

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001252517.8

Allele description [Variation Report for NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)]

NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)

Gene:
HEXA:hexosaminidase subunit alpha [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
Other names:
1278insTATC; +TATC1278
HGVS:
  • NC_000015.10:g.72346580_72346583dup
  • NG_009017.2:g.34597_34600dup
  • NG_009017.3:g.34431_34434dup
  • NM_000520.6:c.1274_1277dupMANE SELECT
  • NM_001318825.2:c.1307_1310dup
  • NP_000511.2:p.Tyr427fs
  • NP_001305754.1:p.Tyr438fs
  • NC_000015.9:g.72638920_72638921insGATA
  • NC_000015.9:g.72638921_72638924dup
  • NG_009017.1:g.34597_34600dup
  • NM_000520.4:c.1274_1277dup
  • NM_000520.4:c.1274_1277dupTATC
  • NM_000520.5:c.1274_1277dup
  • NM_000520.5:c.1274_1277dupTATC
  • NP_000511.2:p.Tyr42fs
  • c.1274_1277dupTATC (p.Tyr427Ilefs*5)
  • p.Y427IfsX5
Protein change:
Y427fs
Links:
OMIM: 606869.0001; dbSNP: rs387906309
NCBI 1000 Genomes Browser:
rs387906309
Molecular consequence:
  • NM_000520.6:c.1274_1277dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318825.2:c.1307_1310dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001428274Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
no assertion criteria provided
Uncertain significance
(Jan 1, 2019) 		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 de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, SCV001428274.1

#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: Oct 20, 2024