NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Dec 3, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)]

NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)

AHI1:Abelson helper integration site 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)
  • NC_000006.12:g.135438414T>A
  • NG_008643.2:g.64352A>T
  • NM_001134830.2:c.1997A>T
  • NM_001134831.2:c.1997A>TMANE SELECT
  • NM_001134832.2:c.1997A>T
  • NM_001350503.2:c.1997A>T
  • NM_001350504.2:c.1997A>T
  • NM_017651.5:c.1997A>T
  • NP_001128302.1:p.Asp666Val
  • NP_001128303.1:p.Asp666Val
  • NP_001128304.1:p.Asp666Val
  • NP_001337432.1:p.Asp666Val
  • NP_001337433.1:p.Asp666Val
  • NP_060121.3:p.Asp666Val
  • NP_060121.3:p.Asp666Val
  • NC_000006.11:g.135759552T>A
  • NM_001134831.1:c.1997A>T
  • NM_017651.4:c.1997A>T
Protein change:
dbSNP: rs863225147
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001134830.2:c.1997A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134831.2:c.1997A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134832.2:c.1997A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350503.2:c.1997A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350504.2:c.1997A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.5:c.1997A>T - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000491090GeneDxcriteria provided, single submitter
Likely pathogenic
(Dec 3, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000491090.1

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


p.Asp666Val (D666V) (GAT>GTT): c.1997 A>T in exon 14 of the AHI1 gene (NM_017651.4) The D666V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these population. The D666V variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals, and in silico analysis predicts this variant is probably damaging to the protein structure/function.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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