NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met) AND Agenesis of cerebellar vermis

Clinical significance:Likely benign (Last evaluated: Dec 31, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000863175.2

Allele description [Variation Report for NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met)]

NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met)

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.2945G>T (p.Arg982Met)
HGVS:
  • NC_000006.12:g.135411364C>A
  • NG_008643.2:g.91402G>T
  • NM_001134830.2:c.2945G>T
  • NM_001134831.2:c.2945G>TMANE SELECT
  • NM_001134832.2:c.2945G>T
  • NM_001350503.2:c.2945G>T
  • NM_001350504.2:c.2945G>T
  • NM_017651.4:c.2945G>T
  • NM_017651.5:c.2945G>T
  • NP_001128302.1:p.Arg982Met
  • NP_001128303.1:p.Arg982Met
  • NP_001128304.1:p.Arg982Met
  • NP_001337432.1:p.Arg982Met
  • NP_001337433.1:p.Arg982Met
  • NP_060121.3:p.Arg982Met
  • NP_060121.3:p.Arg982Met
  • NC_000006.11:g.135732502C>A
Protein change:
R982M
Links:
dbSNP: rs370400336
NCBI 1000 Genomes Browser:
rs370400336
Molecular consequence:
  • NM_001134830.2:c.2945G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134831.2:c.2945G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134832.2:c.2945G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350503.2:c.2945G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350504.2:c.2945G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.4:c.2945G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.5:c.2945G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Agenesis of cerebellar vermis (JBTS)
Synonyms:
CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Cerebelloparenchymal disorder 4; See all synonyms [MedGen]
Identifiers:
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)
OriginMethodCitations
SCV001003786Invitaecriteria provided, single submitter
Likely benign
(Dec 31, 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

Citations

PubMed

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]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001003786.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

Support Center