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NM_001481.3(GAS8):c.131G>A (p.Arg44His) AND Primary ciliary dyskinesia 33

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 19, 2023
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:
RCV001041660.6

Allele description [Variation Report for NM_001481.3(GAS8):c.131G>A (p.Arg44His)]

NM_001481.3(GAS8):c.131G>A (p.Arg44His)

Gene:
GAS8:growth arrest specific 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_001481.3(GAS8):c.131G>A (p.Arg44His)
HGVS:
  • NC_000016.10:g.90031339G>A
  • NG_046598.1:g.16711G>A
  • NG_054714.1:g.3563C>T
  • NM_001286205.2:c.-119G>A
  • NM_001286208.2:c.-391G>A
  • NM_001286209.2:c.56G>A
  • NM_001481.3:c.131G>AMANE SELECT
  • NP_001273138.1:p.Arg19His
  • NP_001472.1:p.Arg44His
  • NC_000016.9:g.90097747G>A
  • NM_001481.2:c.131G>A
Protein change:
R19H
Links:
dbSNP: rs200219366
NCBI 1000 Genomes Browser:
rs200219366
Molecular consequence:
  • NM_001286205.2:c.-119G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001286208.2:c.-391G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001286209.2:c.56G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001481.3:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary ciliary dyskinesia 33
Synonyms:
CILIARY DYSKINESIA, PRIMARY, 33, WITHOUT SITUS INVERSUS
Identifiers:
MONDO: MONDO:0014750; MedGen: C4225230; Orphanet: 244; OMIM: 616726

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001205285Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Dec 19, 2023)
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, SCV001205285.5

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

Description

This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 44 of the GAS8 protein (p.Arg44His). This variant is present in population databases (rs200219366, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with GAS8-related conditions. ClinVar contains an entry for this variant (Variation ID: 839815). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GAS8 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: Feb 20, 2024