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NM_000051.4(ATM):c.5712dup (p.Ser1905fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 31, 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:
RCV002492499.3

Allele description [Variation Report for NM_000051.4(ATM):c.5712dup (p.Ser1905fs)]

NM_000051.4(ATM):c.5712dup (p.Ser1905fs)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
HGVS:
  • NC_000011.10:g.108307934dup
  • NG_009830.1:g.90103dup
  • NG_054724.1:g.166904dup
  • NM_000051.4:c.5712dupMANE SELECT
  • NM_001351834.2:c.5712dup
  • NP_000042.3:p.Ser1905fs
  • NP_000042.3:p.Ser1905fs
  • NP_001338763.1:p.Ser1905fs
  • LRG_135t1:c.5712dup
  • LRG_135:g.90103dup
  • LRG_135p1:p.Ser1905fs
  • NC_000011.9:g.108178655_108178656insA
  • NC_000011.9:g.108178661dup
  • NM_000051.3:c.5712dup
  • NM_000051.3:c.5712dupA
  • NM_000051.4:c.5712dupAMANE SELECT
  • p.S1905Ifs*25
  • p.S1905IfsX25
Protein change:
S1905fs
Links:
dbSNP: rs587781730
NCBI 1000 Genomes Browser:
rs587781730
Molecular consequence:
  • NM_000051.4:c.5712dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.5712dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480
Name:
Ataxia-telangiectasia syndrome (AT)
Synonyms:
Louis-Bar syndrome; Cerebello-oculocutaneous telangiectasia; Immunodeficiency with ataxia telangiectasia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008840; MedGen: C0004135; Orphanet: 100; OMIM: 208900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002780645Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 31, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002780645.1

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

Last Updated: Oct 20, 2024