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NM_000051.4(ATM):c.6795C>T (p.Phe2265=) AND Familial cancer of breast

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 10, 2024
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:
RCV004589608.1

Allele description [Variation Report for NM_000051.4(ATM):c.6795C>T (p.Phe2265=)]

NM_000051.4(ATM):c.6795C>T (p.Phe2265=)

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.6795C>T (p.Phe2265=)
Other names:
p.F2265F:TTC>TTT
HGVS:
  • NC_000011.10:g.108325532C>T
  • NG_009830.1:g.107701C>T
  • NG_054724.1:g.149301G>A
  • NM_000051.4:c.6795C>TMANE SELECT
  • NM_001330368.2:c.641-16461G>A
  • NM_001351110.2:c.*38+9688G>A
  • NM_001351834.2:c.6795C>T
  • NP_000042.3:p.Phe2265=
  • NP_000042.3:p.Phe2265=
  • NP_001338763.1:p.Phe2265=
  • LRG_135t1:c.6795C>T
  • LRG_135:g.107701C>T
  • LRG_135p1:p.Phe2265=
  • NC_000011.9:g.108196259C>T
  • NM_000051.3:c.6795C>T
  • p.F2265F
Links:
dbSNP: rs3218699
NCBI 1000 Genomes Browser:
rs3218699
Molecular consequence:
  • NM_001330368.2:c.641-16461G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+9688G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.6795C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001351834.2:c.6795C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005084804Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))
Benign
(Jun 10, 2024)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV005084804.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 1, 2025