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NM_000051.4(ATM):c.610G>A (p.Gly204Arg) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV001535620.6

Allele description [Variation Report for NM_000051.4(ATM):c.610G>A (p.Gly204Arg)]

NM_000051.4(ATM):c.610G>A (p.Gly204Arg)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
Other names:
p.G204R:GGA>AGA
HGVS:
  • NC_000011.10:g.108244066G>A
  • NG_009830.1:g.26235G>A
  • NM_000051.4:c.610G>AMANE SELECT
  • NM_001351834.2:c.610G>A
  • NP_000042.3:p.Gly204Arg
  • NP_000042.3:p.Gly204Arg
  • NP_001338763.1:p.Gly204Arg
  • LRG_135t1:c.610G>A
  • LRG_135:g.26235G>A
  • LRG_135p1:p.Gly204Arg
  • NC_000011.9:g.108114793G>A
  • NM_000051.3:c.610G>A
  • p.G204R
Protein change:
G204R
Links:
dbSNP: rs147915571
NCBI 1000 Genomes Browser:
rs147915571
Molecular consequence:
  • NM_000051.4:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]

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
Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749645GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749645.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 05-06-2016 by Ambry Genetics. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Nov 24, 2024