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NM_001674.4(ATF3):c.124A>G (p.Lys42Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 6, 2021
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:
RCV004093304.1

Allele description [Variation Report for NM_001674.4(ATF3):c.124A>G (p.Lys42Glu)]

NM_001674.4(ATF3):c.124A>G (p.Lys42Glu)

Gene:
ATF3:activating transcription factor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.3
Genomic location:
Preferred name:
NM_001674.4(ATF3):c.124A>G (p.Lys42Glu)
HGVS:
  • NC_000001.11:g.212615145A>G
  • NG_029871.1:g.54791A>G
  • NM_001030287.4:c.124A>G
  • NM_001040619.3:c.124A>G
  • NM_001206484.3:c.-48A>G
  • NM_001206486.2:c.40-3A>G
  • NM_001206488.3:c.-48A>G
  • NM_001674.4:c.124A>GMANE SELECT
  • NP_001025458.1:p.Lys42Glu
  • NP_001035709.1:p.Lys42Glu
  • NP_001665.1:p.Lys42Glu
  • NC_000001.10:g.212788487A>G
  • NM_001674.3:c.124A>G
Protein change:
K42E
Molecular consequence:
  • NM_001206484.3:c.-48A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001206488.3:c.-48A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001206486.2:c.40-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001030287.4:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040619.3:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001674.4:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003551117Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 6, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003551117.2

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

Description

The c.124A>G (p.K42E) alteration is located in exon 2 (coding exon 1) of the ATF3 gene. This alteration results from a A to G substitution at nucleotide position 124, causing the lysine (K) at amino acid position 42 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024