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NM_182810.3(ATF4):c.604G>C (p.Ala202Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 17, 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:
RCV004423194.1

Allele description [Variation Report for NM_182810.3(ATF4):c.604G>C (p.Ala202Pro)]

NM_182810.3(ATF4):c.604G>C (p.Ala202Pro)

Gene:
ATF4:activating transcription factor 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.1
Genomic location:
Preferred name:
NM_182810.3(ATF4):c.604G>C (p.Ala202Pro)
HGVS:
  • NC_000022.11:g.39522150G>C
  • NM_001675.4:c.604G>C
  • NM_182810.3:c.604G>CMANE SELECT
  • NP_001666.2:p.Ala202Pro
  • NP_877962.1:p.Ala202Pro
  • NC_000022.10:g.39918155G>C
  • NM_001675.2:c.604G>C
Protein change:
A202P
Molecular consequence:
  • NM_001675.4:c.604G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182810.3:c.604G>C - 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
SCV004909835Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 17, 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, SCV004909835.1

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

Description

The c.604G>C (p.A202P) alteration is located in exon 2 (coding exon 2) of the ATF4 gene. This alteration results from a G to C substitution at nucleotide position 604, causing the alanine (A) at amino acid position 202 to be replaced by a proline (P). 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: May 7, 2024