NM_000051.4(ATM):c.5168T>C (p.Val1723Ala) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 7, 2019
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:: RCV000571431.9

Allele description [Variation Report for NM_000051.4(ATM):c.5168T>C (p.Val1723Ala)]

NM_000051.4(ATM):c.5168T>C (p.Val1723Ala)

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.5168T>C (p.Val1723Ala)

HGVS:

NC_000011.10:g.108299876T>C
NG_009830.1:g.82045T>C
NM_000051.4:c.5168T>CMANE SELECT
NM_001351834.2:c.5168T>C
NP_000042.3:p.Val1723Ala
NP_000042.3:p.Val1723Ala
NP_001338763.1:p.Val1723Ala
LRG_135t1:c.5168T>C
LRG_135:g.82045T>C
LRG_135p1:p.Val1723Ala
NC_000011.9:g.108170603T>C
NM_000051.3:c.5168T>C

Protein change:

V1723A

Links:

dbSNP: rs915337829

NCBI 1000 Genomes Browser:

rs915337829

Molecular consequence:

NM_000051.4:c.5168T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001351834.2:c.5168T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000668159	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (May 7, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000668159

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(May 7, 2019)

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	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000668159.4

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

Description

The p.V1723A variant (also known as c.5168T>C), located in coding exon 33 of the ATM gene, results from a T to C substitution at nucleotide position 5168. The valine at codon 1723 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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