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NM_001134831.2(AHI1):c.3486-10C>T AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003151489.2

Allele description [Variation Report for NM_001134831.2(AHI1):c.3486-10C>T]

NM_001134831.2(AHI1):c.3486-10C>T

Gene:
AHI1:Abelson helper integration site 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q23.3
Genomic location:
Preferred name:
NM_001134831.2(AHI1):c.3486-10C>T
HGVS:
  • NC_000006.12:g.135290535G>A
  • NG_008643.2:g.212231C>T
  • NM_001134830.2:c.3486-10C>T
  • NM_001134831.2:c.3486-10C>TMANE SELECT
  • NM_001350503.2:c.3486-10C>T
  • NM_001350504.2:c.3486-4888C>T
  • NM_017651.5:c.3486-10C>T
  • NC_000006.11:g.135611673G>A
  • NM_017651.4:c.3486-10C>T
Molecular consequence:
  • NM_001134830.2:c.3486-10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001134831.2:c.3486-10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350503.2:c.3486-10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350504.2:c.3486-4888C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017651.5:c.3486-10C>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV003839382Genetic Services Laboratory, University of Chicago
no assertion criteria provided
Uncertain significance
(Jun 14, 2022) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV003839382.1

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

Description

DNA sequence analysis of the AHI1 gene demonstrated a sequence change in intron 26, c.3486-10C>T. This change does not appear to have been previously described in individuals with AHI1-related disorders and has also not been described in population databases such as ExAC and gnomAD. This sequence change is not predicted to have a significant impact on splicing based on in-silico splice prediction programs. It is possible that this sequence change represents a benign sequence change in the AHI1gene that has not been identified to date. The functional significance of this sequence change is not known at present and its contribution to this individual's disease phenotype cannot definitively be determined.

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

Last Updated: Sep 29, 2024