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NM_001623.5(AIF1):c.215G>A (p.Arg72Gln) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 5, 2022
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:
RCV004239754.1

Allele description [Variation Report for NM_001623.5(AIF1):c.215G>A (p.Arg72Gln)]

NM_001623.5(AIF1):c.215G>A (p.Arg72Gln)

Gene:
AIF1:allograft inflammatory factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_001623.5(AIF1):c.215G>A (p.Arg72Gln)
Other names:
NM_004847.3:c.251G>A
HGVS:
  • NC_000006.12:g.31616362G>A
  • NG_107791.1:g.463G>A
  • NM_001318970.2:c.53G>A
  • NM_001623.5:c.215G>AMANE SELECT
  • NM_032955.3:c.53G>A
  • NP_001305899.1:p.Arg18Gln
  • NP_001614.3:p.Arg72Gln
  • NP_116573.1:p.Arg18Gln
  • NC_000006.11:g.31584139G>A
Protein change:
R18Q
Molecular consequence:
  • NM_001318970.2:c.53G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001623.5:c.215G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032955.3:c.53G>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
SCV003745882Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 5, 2022) 		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, SCV003745882.2

#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