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NM_032829.3(FAM222A):c.844G>A (p.Gly282Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 27, 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:
RCV004337240.1

Allele description [Variation Report for NM_032829.3(FAM222A):c.844G>A (p.Gly282Ser)]

NM_032829.3(FAM222A):c.844G>A (p.Gly282Ser)

Genes:
FAM222A-AS1:FAM222A antisense RNA 1 [Gene - HGNC]
FAM222A:family with sequence similarity 222 member A [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_032829.3(FAM222A):c.844G>A (p.Gly282Ser)
HGVS:
  • NC_000012.12:g.109768773G>A
  • NM_032829.3:c.844G>AMANE SELECT
  • NP_116218.2:p.Gly282Ser
  • NC_000012.11:g.110206578G>A
  • NM_032829.2:c.844G>A
Protein change:
G282S
Molecular consequence:
  • NM_032829.3:c.844G>A - 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
SCV004055442Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 27, 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, SCV004055442.2

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

Description

The c.844G>A (p.G282S) alteration is located in exon 3 (coding exon 2) of the FAM222A gene. This alteration results from a G to A substitution at nucleotide position 844, causing the glycine (G) at amino acid position 282 to be replaced by a serine (S). 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 3, 2024