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NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 22, 2023
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:
RCV002264996.10

Allele description [Variation Report for NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter)]

NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter)

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
Insertion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter)
HGVS:
  • NC_000011.10:g.108319977_108319978insG
  • NG_009830.1:g.102146_102147insG
  • NG_054724.1:g.154855_154856insC
  • NM_000051.4:c.6371_6372insGMANE SELECT
  • NM_001330368.2:c.641-10907_641-10906insC
  • NM_001351110.2:c.*39-10907_*39-10906insC
  • NM_001351834.2:c.6371_6372insG
  • NP_000042.3:p.Tyr2124Ter
  • NP_000042.3:p.Tyr2124Terfs
  • NP_001338763.1:p.Tyr2124Ter
  • LRG_135t1:c.6371_6372insG
  • LRG_135:g.102146_102147insG
  • LRG_135p1:p.Tyr2124Terfs
  • NC_000011.9:g.108190704_108190705insG
  • NM_000051.3:c.6371_6372insG
Protein change:
Y2124*
Links:
dbSNP: rs2085078278
NCBI 1000 Genomes Browser:
rs2085078278
Molecular consequence:
  • NM_001330368.2:c.641-10907_641-10906insC - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*39-10907_*39-10906insC - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.6371_6372insG - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351834.2:c.6371_6372insG - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002547146GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Apr 22, 2023) 		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, SCV002547146.3

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; This variant is associated with the following publications: (PMID: 8659541, 8808599, 10817650, 10330348)

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

Last Updated: Sep 16, 2024