NM_000051.4(ATM):c.4437-1G>C AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 15, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000486776.3

Allele description [Variation Report for NM_000051.4(ATM):c.4437-1G>C]

NM_000051.4(ATM):c.4437-1G>C

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.4437-1G>C
HGVS:
  • NC_000011.10:g.108292618G>C
  • NG_009830.1:g.74787G>C
  • NM_000051.4:c.4437-1G>CMANE SELECT
  • NM_001351834.2:c.4437-1G>C
  • LRG_135t1:c.4437-1G>C
  • LRG_135:g.74787G>C
  • NC_000011.9:g.108163345G>C
  • NM_000051.3:c.4437-1G>C
Links:
dbSNP: rs759520465
NCBI 1000 Genomes Browser:
rs759520465
Molecular consequence:
  • NM_000051.4:c.4437-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001351834.2:c.4437-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000568323GeneDxcriteria provided, single submitter
Pathogenic
(Jun 15, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000568323.4

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

Description

Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27535533, 12815592)

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

Last Updated: Nov 27, 2021

Support Center