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NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 8, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000115177.7

Allele description [Variation Report for NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)]

NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)

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.3449G>C (p.Arg1150Thr)
Other names:
p.R1150T:AGA>ACA
HGVS:
  • NC_000011.10:g.108281041G>C
  • NG_009830.1:g.63210G>C
  • NM_000051.4:c.3449G>CMANE SELECT
  • NM_001351834.2:c.3449G>C
  • NP_000042.3:p.Arg1150Thr
  • NP_000042.3:p.Arg1150Thr
  • NP_001338763.1:p.Arg1150Thr
  • LRG_135t1:c.3449G>C
  • LRG_135:g.63210G>C
  • LRG_135p1:p.Arg1150Thr
  • NC_000011.9:g.108151768G>C
  • NM_000051.3:c.3449G>C
Protein change:
R1150T
Links:
dbSNP: rs555219189
NCBI 1000 Genomes Browser:
rs555219189
Molecular consequence:
  • NM_000051.4:c.3449G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.3449G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000149086GeneDxcriteria provided, single submitter
Uncertain significance
(Apr 8, 2021)
germlineclinical testing

Citation Link,

SCV001714396Mayo Clinic Laboratories,Mayo Cliniccriteria provided, single submitter
Uncertain significance
(Mar 10, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneDx, SCV000149086.13

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with breast or ovarian cancer (Singh 2018); This variant is associated with the following publications: (PMID: 29470806, 31919090)

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

From Mayo Clinic Laboratories,Mayo Clinic, SCV001714396.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 29, 2022