NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: May 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000587034.20

Allele description [Variation Report for NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser)]

NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser)

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.7757A>G (p.Asn2586Ser)

Other names:

p.N2586S:AAT>AGT

HGVS:

NC_000011.10:g.108332006A>G
NG_009830.1:g.114175A>G
NG_054724.1:g.142827T>C
NM_000051.4:c.7757A>GMANE SELECT
NM_001330368.2:c.641-22935T>C
NM_001351110.2:c.*38+3214T>C
NM_001351834.2:c.7757A>G
NP_000042.3:p.Asn2586Ser
NP_000042.3:p.Asn2586Ser
NP_001338763.1:p.Asn2586Ser
LRG_135t1:c.7757A>G
LRG_135:g.114175A>G
LRG_135p1:p.Asn2586Ser
NC_000011.9:g.108202733A>G
NM_000051.3:c.7757A>G

Protein change:

N2586S

Links:

dbSNP: rs587778079

NCBI 1000 Genomes Browser:

rs587778079

Molecular consequence:

NM_001330368.2:c.641-22935T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.*38+3214T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000051.4:c.7757A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351834.2:c.7757A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000209645	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 1, 2023)	germline	clinical testing	Citation Link,
SCV000335111	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Sep 29, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000209645

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(May 1, 2023)

germline

clinical testing

Citation Link,

SCV000335111

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Sep 29, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000209645.20

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Identified in healthy individuals undergoing whole genome sequencing (Bodian et al., 2014); This variant is associated with the following publications: (PMID: 24728327)

#	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		not provided	not provided	not provided	not provided

From Eurofins Ntd Llc (ga), SCV000335111.4

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

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

Last Updated: Apr 20, 2024

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