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NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 19, 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:
RCV002225365.9

Allele description [Variation Report for NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)]

NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)

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.6995T>C (p.Leu2332Pro)
Other names:
p.L2332P:CTT>CCT; NM_000051.3(ATM):c.6995T>C; NP_000042.3:p.Leu2332Pro
HGVS:
  • NC_000011.10:g.108327664T>C
  • NG_009830.1:g.109833T>C
  • NG_054724.1:g.147169A>G
  • NM_000051.4:c.6995T>CMANE SELECT
  • NM_001330368.2:c.641-18593A>G
  • NM_001351110.2:c.*38+7556A>G
  • NM_001351834.2:c.6995T>C
  • NP_000042.3:p.Leu2332Pro
  • NP_000042.3:p.Leu2332Pro
  • NP_001338763.1:p.Leu2332Pro
  • LRG_135t1:c.6995T>C
  • LRG_135:g.109833T>C
  • LRG_135p1:p.Leu2332Pro
  • NC_000011.9:g.108198391T>C
  • NM_000051.3:c.6995T>C
  • Q13315:p.Leu2332Pro
  • p.L2332P
Protein change:
L2332P
Links:
UniProtKB: Q13315#VAR_041574; dbSNP: rs4988111
NCBI 1000 Genomes Browser:
rs4988111
Molecular consequence:
  • NM_001330368.2:c.641-18593A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+7556A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.6995T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.6995T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
6

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002504763National Health Laboratory Service, Universitas Academic Hospital and University of the Free State
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Apr 19, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes6not 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 National Health Laboratory Service, Universitas Academic Hospital and University of the Free State, SCV002504763.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided6not providednot providednot provided

Last Updated: Nov 24, 2024