NM_000051.4(ATM):c.2083C>T (p.Leu695=) AND Familial cancer of breast

Germline classification:
Benign (1 submission)
Last evaluated:
May 7, 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:
RCV004593015.1

Allele description [Variation Report for NM_000051.4(ATM):c.2083C>T (p.Leu695=)]

NM_000051.4(ATM):c.2083C>T (p.Leu695=)

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.2083C>T (p.Leu695=)
HGVS:
  • NC_000011.10:g.108253998C>T
  • NG_009830.1:g.36167C>T
  • NM_000051.4:c.2083C>TMANE SELECT
  • NM_001351834.2:c.2083C>T
  • NP_000042.3:p.Leu695=
  • NP_000042.3:p.Leu695=
  • NP_001338763.1:p.Leu695=
  • LRG_135t1:c.2083C>T
  • LRG_135:g.36167C>T
  • LRG_135p1:p.Leu695=
  • NC_000011.9:g.108124725C>T
  • NM_000051.3:c.2083C>T
Molecular consequence:
  • NM_000051.4:c.2083C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001351834.2:c.2083C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005085720Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Benign
(May 7, 2024) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV005085720.1

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

Description

This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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

Last Updated: Sep 8, 2024