NM_000051.4(ATM):c.2074C>T (p.Arg692Cys) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 8, 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:: RCV003483533.1

Allele description [Variation Report for NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)]

NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)

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.2074C>T (p.Arg692Cys)

HGVS:

NC_000011.10:g.108253989C>T
NG_009830.1:g.36158C>T
NM_000051.4:c.2074C>TMANE SELECT
NM_001351834.2:c.2074C>T
NP_000042.3:p.Arg692Cys
NP_000042.3:p.Arg692Cys
NP_001338763.1:p.Arg692Cys
LRG_135t1:c.2074C>T
LRG_135:g.36158C>T
LRG_135p1:p.Arg692Cys
NC_000011.9:g.108124716C>T
NM_000051.3:c.2074C>T
p.R692C

Protein change:

R692C

Links:

dbSNP: rs765965513

NCBI 1000 Genomes Browser:

rs765965513

Molecular consequence:

NM_000051.4:c.2074C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001351834.2:c.2074C>T - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004228281	German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jan 8, 2024)	germline	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004228281

German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jan 8, 2024)

germline

curation

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	curation

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 German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, SCV004228281.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (1)

Description

ATM specific: AGVGD Class0, SIFT: Tolerated, outside of FATKIN-domain, Found in trans with ATM frameshift variant in a 70 year old patient without signs of AT. According to the ACMG standard criteria we chose these criteria: BP4 (supporting benign): BP4 (ClinGen Interpretation Guidelines for ATM Version 1.1: REVEL score <.249), BS2 (strong benign): Found in trans with ATM frameshift variant in a 70 year old patient without signs of AT

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine