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NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 26, 2016
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:
RCV000679143.13

Allele description [Variation Report for NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)]

NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
Indel
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)
Other names:
LRG_135t1:c.7875_7876delTGinsGC
HGVS:
  • NC_000011.10:g.108332848_108332849delinsGC
  • NG_009830.1:g.115017_115018delTGinsGC
  • NG_009830.1:g.115017_115018delinsGC
  • NG_054724.1:g.141984_141985delinsGC
  • NM_000051.4:c.7875_7876delinsGCMANE SELECT
  • NM_001330368.2:c.641-23778_641-23777delinsGC
  • NM_001351110.2:c.*38+2371_*38+2372delinsGC
  • NM_001351834.2:c.7875_7876delinsGC
  • NP_000042.3:p.Asp2625_Ala2626delinsGluPro
  • NP_000042.3:p.Asp2625_Ala2626delinsGluPro
  • NP_001338763.1:p.Asp2625_Ala2626delinsGluPro
  • LRG_135t1:c.7875_7876delinsGC
  • LRG_135:g.115017_115018delTGinsGC
  • LRG_135:g.115017_115018delinsGC
  • NC_000011.10:g.108332848_108332849delTGinsGC
  • NC_000011.9:g.108203575_108203576delinsGC
  • NG_009830.1:g.115017_115018delTGinsGC
  • NM_000051.3:c.7875_7876delTGinsGC
  • NM_000051.3:c.7875_7876delTGinsGC
  • NM_000051.3:c.7875_7876delinsGC
Protein change:
ASP2625GLU, ALA2626PRO
Links:
OMIM: 607585.0013; dbSNP: rs267606668
NCBI 1000 Genomes Browser:
rs267606668
Molecular consequence:
  • NM_001330368.2:c.641-23778_641-23777delinsGC - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+2371_*38+2372delinsGC - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.7875_7876delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.7875_7876delinsGC - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000805620PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Apr 26, 2016) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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 PreventionGenetics, part of Exact Sciences, SCV000805620.1

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

Last Updated: Nov 10, 2024