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NM_000051.4(ATM):c.3994A>G (p.Ile1332Val) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 13, 2022
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:
RCV002375596.2

Allele description [Variation Report for NM_000051.4(ATM):c.3994A>G (p.Ile1332Val)]

NM_000051.4(ATM):c.3994A>G (p.Ile1332Val)

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.3994A>G (p.Ile1332Val)
HGVS:
  • NC_000011.10:g.108287600A>G
  • NG_009830.1:g.69769A>G
  • NM_000051.4:c.3994A>GMANE SELECT
  • NM_001351834.2:c.3994A>G
  • NP_000042.3:p.Ile1332Val
  • NP_000042.3:p.Ile1332Val
  • NP_001338763.1:p.Ile1332Val
  • LRG_135t1:c.3994A>G
  • LRG_135:g.69769A>G
  • LRG_135p1:p.Ile1332Val
  • NC_000011.9:g.108158327A>G
  • NM_000051.3:c.3994A>G
Protein change:
I1332V
Molecular consequence:
  • NM_000051.4:c.3994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.3994A>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002625593Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 13, 2022) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M.

Nat Commun. 2018 Oct 4;9(1):4083. doi: 10.1038/s41467-018-06581-8.

PubMed [citation]
PMID:
30287823
PMCID:
PMC6172276

Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.

Momozawa Y, Iwasaki Y, Hirata M, Liu X, Kamatani Y, Takahashi A, Sugano K, Yoshida T, Murakami Y, Matsuda K, Nakagawa H, Spurdle AB, Kubo M.

J Natl Cancer Inst. 2020 Apr 1;112(4):369-376. doi: 10.1093/jnci/djz124.

PubMed [citation]
PMID:
31214711
PMCID:
PMC7156928

Details of each submission

From Ambry Genetics, SCV002625593.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.I1332V variant (also known as c.3994A>G) is located in coding exon 26 of the ATM gene. The isoleucine at codon 1332 is replaced by valine, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 26. This alteration was not observed in 7,051 unselected female breast cancer patients, 53 unselected male breast cancer patients or in 11,241 female controls, but was observed in 1/12,490 male controls of Japanese ancestry (Momozawa Y et al. Nat Commun, 2018 10;9:4083). This alteration has been reported in 0/7,636 unselected prostate cancer patients and 1/12,366 male controls of Japanese ancestry (Momozawa Y et al. J Natl Cancer Inst, 2020 04;112:369-376). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated 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: May 1, 2024