U.S. flag

An official website of the United States government

NM_001134831.2(AHI1):c.331C>T (p.Pro111Ser) AND Familial aplasia of the vermis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 17, 2021
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:
RCV001882817.5

Allele description [Variation Report for NM_001134831.2(AHI1):c.331C>T (p.Pro111Ser)]

NM_001134831.2(AHI1):c.331C>T (p.Pro111Ser)

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.331C>T (p.Pro111Ser)
HGVS:
  • NC_000006.12:g.135466232G>A
  • NG_008643.2:g.36534C>T
  • NM_001134830.2:c.331C>T
  • NM_001134831.2:c.331C>TMANE SELECT
  • NM_001134832.2:c.331C>T
  • NM_001350503.2:c.331C>T
  • NM_001350504.2:c.331C>T
  • NM_017651.5:c.331C>T
  • NP_001128302.1:p.Pro111Ser
  • NP_001128303.1:p.Pro111Ser
  • NP_001128304.1:p.Pro111Ser
  • NP_001337432.1:p.Pro111Ser
  • NP_001337433.1:p.Pro111Ser
  • NP_060121.3:p.Pro111Ser
  • NC_000006.11:g.135787370G>A
  • NM_017651.4:c.331C>T
Protein change:
P111S
Links:
dbSNP: rs776053386
NCBI 1000 Genomes Browser:
rs776053386
Molecular consequence:
  • NM_001134830.2:c.331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134831.2:c.331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134832.2:c.331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350503.2:c.331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350504.2:c.331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.5:c.331C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial aplasia of the vermis
Synonyms:
CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Cerebelloparenchymal disorder 4; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002115927Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 17, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Nothing to display

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002115927.2

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

Description

This sequence change replaces proline with serine at codon 111 of the AHI1 protein (p.Pro111Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs776053386, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with AHI1-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt AHI1 protein function. 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.

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

Last Updated: Oct 8, 2024