NM_001077418.3(TMEM231):c.166G>C (p.Glu56Gln) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 21, 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:: RCV001866223.4

Allele description [Variation Report for NM_001077418.3(TMEM231):c.166G>C (p.Glu56Gln)]

NM_001077418.3(TMEM231):c.166G>C (p.Glu56Gln)

Genes:

LOC130059440:ATAC-STARR-seq lymphoblastoid silent region 7724 [Gene]
TMEM231:transmembrane protein 231 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q23.1

Genomic location:

Preferred name:

NM_001077418.3(TMEM231):c.166G>C (p.Glu56Gln)

HGVS:

NC_000016.10:g.75555947C>G
NG_033109.1:g.5340G>C
NM_001077416.2:c.325G>C
NM_001077418.3:c.166G>CMANE SELECT
NP_001070884.2:p.Glu109Gln
NP_001070886.1:p.Glu56Gln
NC_000016.9:g.75589845C>G
NR_074083.2:n.209G>C

Protein change:

E109Q

Links:

dbSNP: rs771783989

NCBI 1000 Genomes Browser:

rs771783989

Molecular consequence:

NM_001077416.2:c.325G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001077418.3:c.166G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_074083.2:n.209G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Joubert syndrome 20 (JBTS20)
Identifiers:: MONDO: MONDO:0013994; MedGen: C3554235; Orphanet: 475; OMIM: 614970

Name:: Meckel syndrome, type 11 (MKS11)
Identifiers:: MONDO: MONDO:0014164; MedGen: C3809352; Orphanet: 564; OMIM: 615397

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002112837	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 21, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002112837

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 21, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Labcorp Genetics (formerly Invitae), Labcorp, SCV002112837.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1219159). This variant has not been reported in the literature in individuals affected with TMEM231-related conditions. This variant is present in population databases (rs771783989, gnomAD 0.009%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 109 of the TMEM231 protein (p.Glu109Gln).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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