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NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Oct 7, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000772397.12

Allele description [Variation Report for NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly)]

NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly)

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly)
HGVS:
  • NC_000011.10:g.108326148T>G
  • NG_009830.1:g.108317T>G
  • NG_054724.1:g.148685A>C
  • NM_000051.4:c.6898T>GMANE SELECT
  • NM_001330368.2:c.641-17077A>C
  • NM_001351110.2:c.*38+9072A>C
  • NM_001351834.2:c.6898T>G
  • NP_000042.3:p.Trp2300Gly
  • NP_000042.3:p.Trp2300Gly
  • NP_001338763.1:p.Trp2300Gly
  • LRG_135t1:c.6898T>G
  • LRG_135:g.108317T>G
  • LRG_135p1:p.Trp2300Gly
  • NC_000011.9:g.108196875T>G
  • NM_000051.3:c.6898T>G
Protein change:
W2300G
Links:
dbSNP: rs1565520641
NCBI 1000 Genomes Browser:
rs1565520641
Molecular consequence:
  • NM_001330368.2:c.641-17077A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+9072A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.6898T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.6898T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000905575Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Sep 29, 2018)
germlineclinical testing

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

SCV002667049Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Oct 7, 2021)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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

Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario.

Lerner-Ellis J, Mighton C, Lazaro C, Watkins N, Di Gioacchino V, Wong A, Chang MC, Charames GS.

J Cancer Res Clin Oncol. 2021 Mar;147(3):871-879. doi: 10.1007/s00432-020-03377-6. Epub 2020 Sep 3. Erratum in: J Cancer Res Clin Oncol. 2021 Aug;147(8):2487. doi: 10.1007/s00432-020-03399-0..

PubMed [citation]
PMID:
32885271

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV000905575.1

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

From Ambry Genetics, SCV002667049.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.W2300G variant (also known as c.6898T>G), located in coding exon 46 of the ATM gene, results from a T to G substitution at nucleotide position 6898. The tryptophan at codon 2300 is replaced by glycine, an amino acid with highly dissimilar properties. This alteration was identified in an individual with a personal and/or family history of breast and/or ovarian cancer (Lerner-Ellis J et al. J Cancer Res Clin Oncol, 2021 Mar;147:871-879). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Feb 8, 2025