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NM_000051.4(ATM):c.1636C>G (p.Leu546Val) 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:
RCV002225356.9

Allele description [Variation Report for NM_000051.4(ATM):c.1636C>G (p.Leu546Val)]

NM_000051.4(ATM):c.1636C>G (p.Leu546Val)

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.1636C>G (p.Leu546Val)
Other names:
p.L546V:CTG>GTG; NP_000042.3:p.Leu546Val
HGVS:
  • NC_000011.10:g.108251865C>G
  • NG_009830.1:g.34034C>G
  • NM_000051.4:c.1636C>GMANE SELECT
  • NM_001351834.2:c.1636C>G
  • NP_000042.3:p.Leu546Val
  • NP_000042.3:p.Leu546Val
  • NP_001338763.1:p.Leu546Val
  • LRG_135t1:c.1636C>G
  • LRG_135:g.34034C>G
  • LRG_135p1:p.Leu546Val
  • NC_000011.9:g.108122592C>G
  • NM_000051.3:c.1636C>G
  • Q13315:p.Leu546Val
  • p.L546V
Protein change:
L546V
Links:
UniProtKB: Q13315#VAR_041554; dbSNP: rs2227924
NCBI 1000 Genomes Browser:
rs2227924
Molecular consequence:
  • NM_000051.4:c.1636C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.1636C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
11

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
SCV002505139National 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 providedgermlineyes11not 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, SCV002505139.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided11not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided11not providednot providednot provided

Last Updated: Nov 3, 2024