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NM_000051.4(ATM):c.6435_6436del (p.Leu2147fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 28, 2015
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:
RCV000236564.10

Allele description [Variation Report for NM_000051.4(ATM):c.6435_6436del (p.Leu2147fs)]

NM_000051.4(ATM):c.6435_6436del (p.Leu2147fs)

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.6435_6436del (p.Leu2147fs)
HGVS:
  • NC_000011.10:g.108320041_108320042del
  • NG_009830.1:g.102210_102211del
  • NG_054724.1:g.154792_154793del
  • NM_000051.4:c.6435_6436delMANE SELECT
  • NM_001330368.2:c.641-10970_641-10969del
  • NM_001351110.2:c.*39-10970_*39-10969del
  • NM_001351834.2:c.6435_6436del
  • NP_000042.3:p.Leu2147Glnfs
  • NP_000042.3:p.Leu2147fs
  • NP_001338763.1:p.Leu2147fs
  • LRG_135t1:c.6435_6436del
  • LRG_135:g.102210_102211del
  • LRG_135p1:p.Leu2147Glnfs
  • NC_000011.9:g.108190768_108190769del
  • NM_000051.3:c.6435_6436delAA
  • NM_000051.3:c.6435_6436delAA
Protein change:
L2147fs
Links:
dbSNP: rs786202323
NCBI 1000 Genomes Browser:
rs786202323
Molecular consequence:
  • NM_000051.4:c.6435_6436del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.6435_6436del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330368.2:c.641-10970_641-10969del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*39-10970_*39-10969del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000293054GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jul 28, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000293054.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This deletion of 2 nucleotides in ATM is denoted c.6435_6436delAA at the cDNA level and p.Leu2147GlnfsX13 (L2147QfsX13) at the protein level. The normal sequence, with the bases that are deleted in braces, is ATGA[AA]GTCT. The deletion causes a frameshift, which changes a Leucine to a Glutamine at codon 2147, and creates a premature stop codon at position 13 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 29, 2024