NM_000051.4(ATM):c.5680G>C (p.Glu1894Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 7, 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:: RCV002347434.2

Allele description [Variation Report for NM_000051.4(ATM):c.5680G>C (p.Glu1894Gln)]

NM_000051.4(ATM):c.5680G>C (p.Glu1894Gln)

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.5680G>C (p.Glu1894Gln)

HGVS:

NC_000011.10:g.108307902G>C
NG_009830.1:g.90071G>C
NG_054724.1:g.166931C>G
NM_000051.4:c.5680G>CMANE SELECT
NM_001351834.2:c.5680G>C
NP_000042.3:p.Glu1894Gln
NP_000042.3:p.Glu1894Gln
NP_001338763.1:p.Glu1894Gln
LRG_135t1:c.5680G>C
LRG_135:g.90071G>C
LRG_135p1:p.Glu1894Gln
NC_000011.9:g.108178629G>C
NM_000051.3:c.5680G>C

Protein change:

E1894Q

Molecular consequence:

NM_000051.4:c.5680G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001351834.2:c.5680G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002652447	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 7, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002652447

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 7, 2022)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002652447.2

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

Description

The p.E1894Q variant (also known as c.5680G>C), located in coding exon 37 of the ATM gene, results from a G to C substitution at nucleotide position 5680. The glutamic acid at codon 1894 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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