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NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter) AND Familial cancer of breast

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 29, 2024
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:
RCV004020673.1

Allele description [Variation Report for NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter)]

NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter)

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.6082C>T (p.Gln2028Ter)
HGVS:
  • NC_000011.10:g.108315898C>T
  • NG_009830.1:g.98067C>T
  • NG_054724.1:g.158935G>A
  • NM_000051.4:c.6082C>TMANE SELECT
  • NM_001330368.2:c.641-6827G>A
  • NM_001351110.2:c.*39-6827G>A
  • NM_001351834.2:c.6082C>T
  • NP_000042.3:p.Gln2028Ter
  • NP_000042.3:p.Gln2028Ter
  • NP_001338763.1:p.Gln2028Ter
  • LRG_135t1:c.6082C>T
  • LRG_135:g.98067C>T
  • LRG_135p1:p.Gln2028Ter
  • NC_000011.9:g.108186625C>T
  • NM_000051.3:c.6082C>T
Protein change:
Q2028*
Links:
dbSNP: rs876659454
NCBI 1000 Genomes Browser:
rs876659454
Molecular consequence:
  • NM_001330368.2:c.641-6827G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*39-6827G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.6082C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351834.2:c.6082C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004933179Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Jan 29, 2024) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004933179.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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

Last Updated: Oct 26, 2024