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NM_001166114.2(PNPLA6):c.833C>G (p.Ala278Gly) AND Ataxia-hypogonadism-choroidal dystrophy syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 3, 2022
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:
RCV001807911.1

Allele description [Variation Report for NM_001166114.2(PNPLA6):c.833C>G (p.Ala278Gly)]

NM_001166114.2(PNPLA6):c.833C>G (p.Ala278Gly)

Gene:
PNPLA6:patatin like phospholipase domain containing 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_001166114.2(PNPLA6):c.833C>G (p.Ala278Gly)
HGVS:
  • NC_000019.10:g.7540960C>G
  • NG_013374.1:g.11809C>G
  • NM_001166111.2:c.860C>G
  • NM_001166112.2:c.716C>G
  • NM_001166113.1:c.716C>G
  • NM_001166114.2:c.833C>GMANE SELECT
  • NM_006702.5:c.716C>G
  • NP_001159583.1:p.Ala287Gly
  • NP_001159584.1:p.Ala239Gly
  • NP_001159585.1:p.Ala239Gly
  • NP_001159586.1:p.Ala278Gly
  • NP_006693.3:p.Ala239Gly
  • NC_000019.9:g.7605846C>G
Protein change:
A239G
Links:
dbSNP: rs1433313104
NCBI 1000 Genomes Browser:
rs1433313104
Molecular consequence:
  • NM_001166111.2:c.860C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166112.2:c.716C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166113.1:c.716C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166114.2:c.833C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006702.5:c.716C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Ataxia-hypogonadism-choroidal dystrophy syndrome (BNHS)
Synonyms:
Boucher Neuhauser syndrome; Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism
Identifiers:
MONDO: MONDO:0008980; MedGen: C1859093; Orphanet: 1180; OMIM: 215470

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV0020581813billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 3, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From 3billion, SCV002058181.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The variant is not observed in the gnomAD v2.1.1 dataset (PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.643, 3CNET: 0.931, PP3_P). A missense variant is a common mechanism associated with Boucher-Neuhauser syndrome (PP2_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024