NM_000051.4(ATM):c.6051_6053dup (p.Ser2017_Leu2018insPhe) AND Ataxia-telangiectasia syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 13, 2022
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:: RCV003606293.2

Allele description [Variation Report for NM_000051.4(ATM):c.6051_6053dup (p.Ser2017_Leu2018insPhe)]

NM_000051.4(ATM):c.6051_6053dup (p.Ser2017_Leu2018insPhe)

Genes:

ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]

Variant type:

Duplication

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000051.4(ATM):c.6051_6053dup (p.Ser2017_Leu2018insPhe)

HGVS:

NC_000011.10:g.108315867_108315869dup
NG_009830.1:g.98036_98038dup
NG_054724.1:g.158964_158966dup
NM_000051.4:c.6051_6053dupMANE SELECT
NM_001330368.2:c.641-6798_641-6796dup
NM_001351110.2:c.*39-6798_*39-6796dup
NM_001351834.2:c.6051_6053dup
NP_000042.3:p.Ser2017_Leu2018insPhe
NP_000042.3:p.Ser2017_Leu2018insPhe
NP_001338763.1:p.Ser2017_Leu2018insPhe
LRG_135t1:c.6051_6053dup
LRG_135:g.98036_98038dup
LRG_135p1:p.Ser2017_Leu2018insPhe
NC_000011.9:g.108186593_108186594insTTT
NC_000011.9:g.108186594_108186596dup
NM_000051.3:c.6051_6053dup

Molecular consequence:

NM_000051.4:c.6051_6053dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001351834.2:c.6051_6053dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001330368.2:c.641-6798_641-6796dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.*39-6798_*39-6796dup - intron variant - [Sequence Ontology: SO:0001627]

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
SCV004485324	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 13, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004485324

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 13, 2022)

germline

clinical testing

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	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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004485324.1

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.6051_6053dup, results in the insertion of 1 amino acid(s) of the ATM protein (p.Ser2017_Leu2018insPhe), but otherwise preserves the integrity of the reading frame.

#	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: Oct 26, 2024

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