NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) AND Familial cancer of breast

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: May 30, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV001253480.13

Allele description [Variation Report for NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)]

NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)

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.6067G>A (p.Gly2023Arg)

Other names:

p.G2023R:GGA>AGA; NP_000042.3:p.Gly2023Arg

HGVS:

NC_000011.10:g.108315883G>A
NG_009830.1:g.98052G>A
NG_054724.1:g.158950C>T
NM_000051.4:c.6067G>AMANE SELECT
NM_001330368.2:c.641-6812C>T
NM_001351110.2:c.*39-6812C>T
NM_001351834.2:c.6067G>A
NP_000042.3:p.Gly2023Arg
NP_000042.3:p.Gly2023Arg
NP_001338763.1:p.Gly2023Arg
LRG_135t1:c.6067G>A
LRG_135:g.98052G>A
LRG_135p1:p.Gly2023Arg
NC_000011.9:g.108186610G>A
NM_000051.2:c.6067G>A
NM_000051.3:c.6067G>A
Q13315:p.Gly2023Arg
p.G2023R

Protein change:

G2023R

Links:

UniProtKB: Q13315#VAR_077238; dbSNP: rs11212587

NCBI 1000 Genomes Browser:

rs11212587

Molecular consequence:

NM_001330368.2:c.641-6812C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.*39-6812C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000051.4:c.6067G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351834.2:c.6067G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001429203	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 5, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005084010	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Likely benign (May 30, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001429203

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 5, 2018)

germline

clinical testing

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

SCV005084010

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Likely benign
(May 30, 2024)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

Pruss D, Morris B, Hughes E, Eggington JM, Esterling L, Robinson BS, van Kan A, Fernandes PH, Roa BB, Gutin A, Wenstrup RJ, Bowles KR.

Breast Cancer Res Treat. 2014 Aug;147(1):119-32. doi: 10.1007/s10549-014-3065-9. Epub 2014 Aug 2.

PubMed [citation]

PMID:: 25085752

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001429203.1

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

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

From Myriad Genetics, Inc., SCV005084010.1

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

Description

This variant is considered likely benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].

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

Last Updated: Sep 16, 2024

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