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NM_000051.3(ATM):c.1431G>C (p.Lys477Asn)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Aug 3, 2018
Accession:
VCV000482694.2
Variation ID:
482694
Description:
single nucleotide variant
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NM_000051.3(ATM):c.1431G>C (p.Lys477Asn)

Allele ID
475454
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108250896 (GRCh38) GRCh38 UCSC
11: 108121623 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.108121623G>C
NC_000011.10:g.108250896G>C
NM_001351834.2:c.1431G>C NP_001338763.1:p.Lys477Asn missense
... more HGVS
Protein change
K477N
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA382534043
dbSNP: rs1555070941
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 13, 2017 RCV000574447.1
Uncertain significance 1 criteria provided, single submitter Aug 3, 2018 RCV000697193.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ATM - - GRCh38
GRCh37
4315 6893

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 13, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000668071.2
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: Insufficient evidence
Uncertain significance
(Aug 03, 2018)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV000825790.2
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces lysine with asparagine at codon 477 of the ATM protein (p.Lys477Asn). The lysine residue is moderately conserved and there is a ... (more)

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Record last updated Nov 06, 2019