NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr) AND Ataxia-telangiectasia syndrome

Clinical significance:Likely benign (Last evaluated: Dec 13, 2021)
Review status:1 star out of maximum of 4 stars
criteria provided, single submitter

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Based on:: 2 submissions [Details]
Record status:: current
Accession:: RCV000199179.13

Allele description [Variation Report for NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)]

NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)

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.3449G>C (p.Arg1150Thr)

Other names:

p.R1150T:AGA>ACA

HGVS:

NC_000011.10:g.108281041G>C
NG_009830.1:g.63210G>C
NM_000051.4:c.3449G>CMANE SELECT
NM_001351834.2:c.3449G>C
NP_000042.3:p.Arg1150Thr
NP_000042.3:p.Arg1150Thr
NP_001338763.1:p.Arg1150Thr
LRG_135t1:c.3449G>C
LRG_135:g.63210G>C
LRG_135p1:p.Arg1150Thr
NC_000011.9:g.108151768G>C
NM_000051.3:c.3449G>C

Protein change:

R1150T

Links:

dbSNP: rs555219189

NCBI 1000 Genomes Browser:

rs555219189

Molecular consequence:

NM_000051.4:c.3449G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001351834.2:c.3449G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Ataxia-telangiectasia syndrome (AT)
Synonyms:: Louis-Bar syndrome; Cerebello-oculocutaneous telangiectasia; Immunodeficiency with ataxia telangiectasia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008840; MedGen: C0004135; Orphanet: 100; OMIM: 208900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000254084	Invitae	criteria provided, single submitter Invitae Variant Classification Sherloc (09022015)	Likely benign (Dec 13, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001457147	Natera, Inc.	no assertion criteria provided	Uncertain significance (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000254084

Invitae

criteria provided, single submitter

Invitae Variant Classification Sherloc (09022015)

Likely benign
(Dec 13, 2021)

germline

clinical testing

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

SCV001457147

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Sep 16, 2020)

germline

clinical testing

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000254084.9

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

From Natera, Inc., SCV001457147.1

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

Last Updated: Nov 29, 2022

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