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NM_002025.4(AFF2):c.3404+7A>G AND not specified

Germline classification:
Benign (2 submissions)
Last evaluated:
Jun 21, 2016
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:
RCV000079971.21

Allele description [Variation Report for NM_002025.4(AFF2):c.3404+7A>G]

NM_002025.4(AFF2):c.3404+7A>G

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.3404+7A>G
HGVS:
  • NC_000023.11:g.148973614A>G
  • NG_016313.2:g.477996A>G
  • NM_001169122.2:c.3299+7A>G
  • NM_001169123.2:c.3374+7A>G
  • NM_001169124.2:c.3299+7A>G
  • NM_001169125.2:c.3287+7A>G
  • NM_001170628.1:c.2327+7A>G
  • NM_002025.4:c.3404+7A>GMANE SELECT
  • NC_000023.10:g.148055144A>G
  • NG_016313.1:g.478006A>G
  • NM_002025.3:c.3404+7A>G
Links:
dbSNP: rs5980615
NCBI 1000 Genomes Browser:
rs5980615
Molecular consequence:
  • NM_001169122.2:c.3299+7A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001169123.2:c.3374+7A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001169124.2:c.3299+7A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001169125.2:c.3287+7A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001170628.1:c.2327+7A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002025.4:c.3404+7A>G - intron variant - [Sequence Ontology: SO:0001627]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000111862Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Jun 21, 2016) 		germlineclinical testing

Citation Link,

SCV000150159Genetic Services Laboratory, University of Chicago
no assertion criteria provided
Likely benigngermlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000111862.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

From Genetic Services Laboratory, University of Chicago, SCV000150159.2

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

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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

Last Updated: Apr 13, 2025