NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 15, 2012
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:: RCV003477687.1

Allele description [Variation Report for NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys)]

NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys)

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.7880A>G (p.Tyr2627Cys)

HGVS:

NC_000011.10:g.108332853A>G
NG_009830.1:g.115022A>G
NG_054724.1:g.141980T>C
NM_000051.4:c.7880A>GMANE SELECT
NM_001330368.2:c.641-23782T>C
NM_001351110.2:c.*38+2367T>C
NM_001351834.2:c.7880A>G
NP_000042.3:p.Tyr2627Cys
NP_000042.3:p.Tyr2627Cys
NP_001338763.1:p.Tyr2627Cys
LRG_135t1:c.7880A>G
LRG_135:g.115022A>G
LRG_135p1:p.Tyr2627Cys
NC_000011.9:g.108203580A>G
NM_000051.3:c.7880A>G

Protein change:

Y2627C

Links:

dbSNP: rs767670019

NCBI 1000 Genomes Browser:

rs767670019

Molecular consequence:

NM_001330368.2:c.641-23782T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.*38+2367T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000051.4:c.7880A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351834.2:c.7880A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Helotiales sp. osu_ktma_12_2e internal transcribed spacer 1, partial sequence; 5...
Helotiales sp. osu_ktma_12_2e internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|669296765|gb|KF428714.1|

Nucleotide
Phialocephala sp. pineroot_b27_mb404 internal transcribed spacer 1, partial sequ...
Phialocephala sp. pineroot_b27_mb404 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|669296768|gb|KF428717.1|

Nucleotide
Fusarium sp. osu_ktma_12_2a1 internal transcribed spacer 1, partial sequence; 5....
Fusarium sp. osu_ktma_12_2a1 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|669296760|gb|KF428709.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004222217	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Oct 15, 2012)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 35264596, 26689913, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004222217

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Oct 15, 2012)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC, Viana DV, Kitajima JPFW, Rocha VM, López RVM, Zheng Y, Freitas É, Monteiro FPM, Valim A, Schlesinger D, Kok F, Olopade OI, Folgueira MAAK.

Sci Rep. 2022 Mar 9;12(1):4190. doi: 10.1038/s41598-022-07383-1.

PubMed [citation]

PMID:: 35264596
PMCID:: PMC8907244

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C, Xie M, Wendl MC, Wang J, McLellan MD, Leiserson MD, Huang KL, Wyczalkowski MA, Jayasinghe R, Banerjee T, Ning J, Tripathi P, Zhang Q, Niu B, Ye K, Schmidt HK, Fulton RS, McMichael JF, Batra P, Kandoth C, Bharadwaj M, Koboldt DC, et al.

Nat Commun. 2015 Dec 22;6:10086. doi: 10.1038/ncomms10086.

PubMed [citation]

PMID:: 26689913
PMCID:: PMC4703835

See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004222217.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

In the published literature, this variant has been reported in individuals with breast cancer (PMID: 35264596 (2022)) and lung squamous cell carcinoma (PMID: 26689913 (2015)). The frequency of this variant in the general population, 0.0000066 (1/152192 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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

Last Updated: Nov 10, 2024

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