NM_000051.4(ATM):c.3990del (p.Lys1330fs) AND Ataxia-telangiectasia syndrome

Clinical significance:Likely pathogenic (Last evaluated: Jul 29, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000410960.1

Allele description [Variation Report for NM_000051.4(ATM):c.3990del (p.Lys1330fs)]

NM_000051.4(ATM):c.3990del (p.Lys1330fs)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.3990del (p.Lys1330fs)
HGVS:
  • NC_000011.10:g.108284470del
  • NG_009830.1:g.66639del
  • NM_000051.4:c.3990delMANE SELECT
  • NM_001351834.2:c.3990del
  • NP_000042.3:p.Lys1330fs
  • NP_001338763.1:p.Lys1330fs
  • LRG_135:g.66639del
  • NC_000011.9:g.108155197del
  • NM_000051.3:c.3990delA
Protein change:
K1330fs
Links:
dbSNP: rs1057517100
NCBI 1000 Genomes Browser:
rs1057517100
Molecular consequence:
  • NM_000051.4:c.3990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.3990del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Ataxia-telangiectasia syndrome (AT)
Synonyms:
Louis-Bar syndrome; Cerebello-oculocutaneous telangiectasia; Immunodeficiency with ataxia telangiectasia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008840; MedGen: C0004135; Orphanet: 100; OMIM: 208900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000486746Counsylcriteria provided, single submitter
Likely pathogenic
(Jul 29, 2016)
unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000486746.1

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

Last Updated: Nov 27, 2021

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