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NM_000051.4(ATM):c.6384del (p.Leu2128fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 29, 2018
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:
RCV000657494.10

Allele description [Variation Report for NM_000051.4(ATM):c.6384del (p.Leu2128fs)]

NM_000051.4(ATM):c.6384del (p.Leu2128fs)

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.6384del (p.Leu2128fs)
HGVS:
  • NC_000011.10:g.108319990del
  • NG_009830.1:g.102159del
  • NG_054724.1:g.154843del
  • NM_000051.4:c.6384delMANE SELECT
  • NM_001330368.2:c.641-10919del
  • NM_001351110.2:c.*39-10919del
  • NM_001351834.2:c.6384del
  • NP_000042.3:p.Leu2128Phefs
  • NP_000042.3:p.Leu2128fs
  • NP_001338763.1:p.Leu2128fs
  • LRG_135t1:c.6384del
  • LRG_135:g.102159del
  • LRG_135p1:p.Leu2128Phefs
  • NC_000011.9:g.108190717del
  • NM_000051.3:c.6384delG
  • NM_000051.3:c.6384delG
Protein change:
L2128fs
Links:
dbSNP: rs1555116427
NCBI 1000 Genomes Browser:
rs1555116427
Molecular consequence:
  • NM_000051.4:c.6384del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.6384del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330368.2:c.641-10919del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*39-10919del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000779229GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Mar 29, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000779229.2

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

Description

This deletion of one nucleotide in ATM is denoted c.6384delG at the cDNA level and p.Leu2128PhefsX8 (L2128FfsX8) at the protein level. The normal sequence, with the base that is deleted in brackets, is CATT[delG]TACA. The deletion causes a frameshift which changes a Leucine to a Phenylalanine at codon 2128, and creates a premature stop codon at position 8 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. Based on currently available evidence, we consider this deletion to be a likely pathogenic variant.

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

Last Updated: Oct 26, 2024