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NM_213599.3(ANO5):c.932C>T (p.Thr311Ile) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 24, 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:
RCV003799517.1

Allele description

NM_213599.3(ANO5):c.932C>T (p.Thr311Ile)

Gene:
ANO5:anoctamin 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p14.3
Genomic location:
Preferred name:
NM_213599.3(ANO5):c.932C>T (p.Thr311Ile)
HGVS:
  • NC_000011.10:g.22250290C>T
  • NG_015844.1:g.62115C>T
  • NM_001142649.2:c.929C>T
  • NM_001410963.1:c.890C>T
  • NM_001410964.1:c.887C>T
  • NM_213599.3:c.932C>TMANE SELECT
  • NP_001136121.1:p.Thr310Ile
  • NP_001397892.1:p.Thr297Ile
  • NP_001397893.1:p.Thr296Ile
  • NP_998764.1:p.Thr311Ile
  • NP_998764.1:p.Thr311Ile
  • LRG_868t1:c.932C>T
  • LRG_868:g.62115C>T
  • LRG_868p1:p.Thr311Ile
  • NC_000011.9:g.22271836C>T
  • NM_213599.2:c.932C>T
Protein change:
T296I
Molecular consequence:
  • NM_001142649.2:c.929C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410963.1:c.890C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410964.1:c.887C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_213599.3:c.932C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Gnathodiaphyseal dysplasia (GDD)
Synonyms:
GNATHODIAPHYSEAL SCLEROSIS; Osteogenesis imperfecta Levin type; Levin syndrome 2; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008151; MedGen: C1833736; OMIM: 166260
Name:
Autosomal recessive limb-girdle muscular dystrophy type 2L (LGMDR12)
Synonyms:
Limb-girdle muscular dystrophy, type 2L; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12
Identifiers:
MONDO: MONDO:0012652; MedGen: C1969785; Orphanet: 206549; OMIM: 611307

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004586394Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jun 24, 2023) 		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

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV004586394.1

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

Description

This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 311 of the ANO5 protein (p.Thr311Ile). This variant has not been reported in the literature in individuals affected with ANO5-related conditions. 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. 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 expected to disrupt ANO5 protein function.

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

Last Updated: Mar 5, 2024