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NM_002025.4(AFF2):c.263A>G (p.His88Arg) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 28, 2020
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:
RCV001265756.3

Allele description [Variation Report for NM_002025.4(AFF2):c.263A>G (p.His88Arg)]

NM_002025.4(AFF2):c.263A>G (p.His88Arg)

Gene:
AFF2:ALF transcription elongation factor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_002025.4(AFF2):c.263A>G (p.His88Arg)
HGVS:
  • NC_000023.11:g.148661990A>G
  • NG_016313.2:g.166372A>G
  • NM_001169122.2:c.251A>G
  • NM_001169123.2:c.251A>G
  • NM_001169124.2:c.263A>G
  • NM_001169125.2:c.251A>G
  • NM_002025.4:c.263A>GMANE SELECT
  • NP_001162593.1:p.His84Arg
  • NP_001162594.1:p.His84Arg
  • NP_001162595.1:p.His88Arg
  • NP_001162596.1:p.His84Arg
  • NP_002016.2:p.His88Arg
  • NC_000023.10:g.147743511A>G
  • NG_016313.1:g.166373A>G
  • NM_002025.3:c.263A>G
Protein change:
H84R
Links:
dbSNP: rs782381902
NCBI 1000 Genomes Browser:
rs782381902
Molecular consequence:
  • NM_001169122.2:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001169123.2:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001169124.2:c.263A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001169125.2:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002025.4:c.263A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001443925Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(May 28, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001443925.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The alteration results in an amino acid change: The c.263A>G (p.H88R) alteration is located in coding exon 3 of the AFF2 gene. This alteration results from a A to G substitution at nucleotide position 263, causing the histidine (H) at amino acid position 88 to be replaced by an arginine (R). The alteration is rare in population databases: Based on data from the Genome Aggregation Database (gnomAD) database, the AFF2 c.263A>G alteration was observed in 0.0005% (1/183370) of total alleles studied, and none were hemizygous. The altered amino acid is conserved throughout evolution: The p.H88 amino acid is conserved in available vertebrate species. The alteration is predicted tolerated by in silico modeling: The p.H88R alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 7, 2023