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NM_000051.4(ATM):c.7871G>C (p.Cys2624Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 7, 2023
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:
RCV003480779.1

Allele description [Variation Report for NM_000051.4(ATM):c.7871G>C (p.Cys2624Ser)]

NM_000051.4(ATM):c.7871G>C (p.Cys2624Ser)

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.7871G>C (p.Cys2624Ser)
Other names:
p.Cys2624Ser
HGVS:
  • NC_000011.10:g.108332844G>C
  • NG_009830.1:g.115013G>C
  • NG_054724.1:g.141989C>G
  • NM_000051.4:c.7871G>CMANE SELECT
  • NM_001330368.2:c.641-23773C>G
  • NM_001351110.2:c.*38+2376C>G
  • NM_001351834.2:c.7871G>C
  • NP_000042.3:p.Cys2624Ser
  • NP_000042.3:p.Cys2624Ser
  • NP_001338763.1:p.Cys2624Ser
  • LRG_135t1:c.7871G>C
  • LRG_135:g.115013G>C
  • LRG_135p1:p.Cys2624Ser
  • NC_000011.9:g.108203571G>C
  • NM_000051.3:c.7871G>C
Protein change:
C2624S
Links:
dbSNP: rs759392666
NCBI 1000 Genomes Browser:
rs759392666
Molecular consequence:
  • NM_001330368.2:c.641-23773C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+2376C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.7871G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.7871G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004226241Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 7, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical 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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV004226241.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024