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NM_000051.4(ATM):c.7879T>C (p.Tyr2627His) AND Familial cancer of breast

Germline classification:
Uncertain significance (1 submission)
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:
RCV001090200.11

Allele description [Variation Report for NM_000051.4(ATM):c.7879T>C (p.Tyr2627His)]

NM_000051.4(ATM):c.7879T>C (p.Tyr2627His)

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.7879T>C (p.Tyr2627His)
HGVS:
  • NC_000011.10:g.108332852T>C
  • NG_009830.1:g.115021T>C
  • NG_054724.1:g.141981A>G
  • NM_000051.4:c.7879T>CMANE SELECT
  • NM_001330368.2:c.641-23781A>G
  • NM_001351110.2:c.*38+2368A>G
  • NM_001351834.2:c.7879T>C
  • NP_000042.3:p.Tyr2627His
  • NP_000042.3:p.Tyr2627His
  • NP_001338763.1:p.Tyr2627His
  • LRG_135t1:c.7879T>C
  • LRG_135:g.115021T>C
  • LRG_135p1:p.Tyr2627His
  • NC_000011.9:g.108203579T>C
  • NC_000011.9:g.108203579T>C
  • NM_000051.3:c.7879T>C
Protein change:
Y2627H
Links:
dbSNP: rs2086422796
NCBI 1000 Genomes Browser:
rs2086422796
Molecular consequence:
  • NM_001330368.2:c.641-23781A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+2368A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.7879T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.7879T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001245498Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1yesclinical 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 Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research, SCV001245498.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providedyesclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1peripheral bloodnot provided1not providednot providednot provided

Last Updated: Nov 10, 2024