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NM_000051.4(ATM):c.2031T>C (p.Ser677=) AND Ataxia-telangiectasia syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 14, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001827185.1

Allele description [Variation Report for NM_000051.4(ATM):c.2031T>C (p.Ser677=)]

NM_000051.4(ATM):c.2031T>C (p.Ser677=)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.2031T>C (p.Ser677=)
HGVS:
  • NC_000011.10:g.108253946T>C
  • NG_009830.1:g.36115T>C
  • NM_000051.4:c.2031T>CMANE SELECT
  • NM_001351834.2:c.2031T>C
  • NP_000042.3:p.Ser677=
  • NP_001338763.1:p.Ser677=
  • LRG_135t1:c.2031T>C
  • LRG_135:g.36115T>C
  • NC_000011.9:g.108124673T>C
  • NM_000051.3:c.2031T>C
Links:
dbSNP: rs1591534580
NCBI 1000 Genomes Browser:
rs1591534580
Molecular consequence:
  • NM_000051.4:c.2031T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001351834.2:c.2031T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Ataxia-telangiectasia syndrome (AT)
Synonyms:
Louis-Bar syndrome; Cerebello-oculocutaneous telangiectasia; Immunodeficiency with ataxia telangiectasia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008840; MedGen: C0004135; Orphanet: 100; OMIM: 208900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002084049Natera, Inc.
no assertion criteria provided
Likely benign
(Nov 14, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002084049.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 8, 2024