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NM_001674.4(ATF3):c.159C>T (p.His53=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 14, 2023
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:
RCV004343976.1

Allele description [Variation Report for NM_001674.4(ATF3):c.159C>T (p.His53=)]

NM_001674.4(ATF3):c.159C>T (p.His53=)

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.159C>T (p.His53=)
HGVS:
  • NC_000001.11:g.212615180C>T
  • NG_029871.1:g.54826C>T
  • NM_001030287.4:c.159C>T
  • NM_001040619.3:c.159C>T
  • NM_001206484.3:c.-13C>T
  • NM_001206486.2:c.72C>T
  • NM_001206488.3:c.-13C>T
  • NM_001674.4:c.159C>TMANE SELECT
  • NP_001025458.1:p.His53=
  • NP_001035709.1:p.His53=
  • NP_001193415.1:p.His24=
  • NP_001665.1:p.His53=
  • NC_000001.10:g.212788522C>T
  • NM_001674.3:c.159C>T
Molecular consequence:
  • NM_001206484.3:c.-13C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001206488.3:c.-13C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001030287.4:c.159C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001040619.3:c.159C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001206486.2:c.72C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001674.4:c.159C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV004069908Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 14, 2023) 		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, SCV004069908.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 10, 2024