U.S. flag

An official website of the United States government

NM_001077418.3(TMEM231):c.140-33C>T AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 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:
RCV001988520.6

Allele description [Variation Report for NM_001077418.3(TMEM231):c.140-33C>T]

NM_001077418.3(TMEM231):c.140-33C>T

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.140-33C>T
HGVS:
  • NC_000016.10:g.75556006G>A
  • NG_033109.1:g.5281C>T
  • NM_001077416.2:c.266C>T
  • NM_001077418.3:c.140-33C>TMANE SELECT
  • NP_001070884.2:p.Pro89Leu
  • NC_000016.9:g.75589904G>A
Protein change:
P89L
Links:
dbSNP: rs901311435
NCBI 1000 Genomes Browser:
rs901311435
Molecular consequence:
  • NM_001077418.3:c.140-33C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001077416.2:c.266C>T - missense variant - [Sequence Ontology: SO:0001583]

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

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
SCV002272675Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jul 14, 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

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, SCV002272675.3

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

Description

This sequence change replaces proline with leucine at codon 89 of the TMEM231 protein (p.Pro89Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with TMEM231-related conditions. This variant is not present in population databases (ExAC no frequency).

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

Last Updated: Sep 29, 2024