NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln) AND Agenesis of cerebellar vermis

Clinical significance:Uncertain significance (Last evaluated: Jul 22, 2019)

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.1052G>A (p.Arg351Gln)]

NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln)

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.1052G>A (p.Arg351Gln)
  • NC_000006.12:g.135457593C>T
  • NG_008643.2:g.45173G>A
  • NM_001134830.2:c.1052G>A
  • NM_001134831.2:c.1052G>AMANE SELECT
  • NM_001134832.2:c.1052G>A
  • NM_001350503.2:c.1052G>A
  • NM_001350504.2:c.1052G>A
  • NM_017651.4:c.1052G>A
  • NM_017651.5:c.1052G>A
  • NP_001128302.1:p.Arg351Gln
  • NP_001128303.1:p.Arg351Gln
  • NP_001128304.1:p.Arg351Gln
  • NP_001337432.1:p.Arg351Gln
  • NP_001337433.1:p.Arg351Gln
  • NP_060121.3:p.Arg351Gln
  • NP_060121.3:p.Arg351Gln
  • NC_000006.11:g.135778731C>T
Protein change:
dbSNP: rs397514726
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001134830.2:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134831.2:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134832.2:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350503.2:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350504.2:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.4:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.5:c.1052G>A - missense variant - [Sequence Ontology: SO:0001583]


Agenesis of cerebellar vermis (JBTS)
CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Cerebelloparenchymal disorder 4; See all synonyms [MedGen]
MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300; Human Phenotype Ontology: HP:0002335

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001406843Invitaecriteria provided, single submitter
Uncertain significance
(Jul 22, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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



Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

Details of each submission

From Invitae, SCV001406843.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)


This sequence change replaces arginine with glutamine at codon 351 of the AHI1 protein (p.Arg351Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with AHI1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Nov 20, 2021

Support Center