NM_001077418.3(TMEM231):c.490C>T (p.Pro164Ser) AND multiple conditions

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 15, 2024
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:: RCV001938537.5

Allele description

NM_001077418.3(TMEM231):c.490C>T (p.Pro164Ser)

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.490C>T (p.Pro164Ser)

HGVS:

NC_000016.10:g.75545444G>A
NG_033109.1:g.15843C>T
NM_001077416.2:c.649C>T
NM_001077418.3:c.490C>TMANE SELECT
NP_001070884.2:p.Pro217Ser
NP_001070886.1:p.Pro164Ser
NC_000016.9:g.75579342G>A
NR_074083.2:n.656C>T

Protein change:

P164S

Links:

dbSNP: rs778407563

NCBI 1000 Genomes Browser:

rs778407563

Molecular consequence:

NM_001077416.2:c.649C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001077418.3:c.490C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_074083.2:n.656C>T - 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

Recent activity

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APOBEC3H[gene] (37)
ClinVar
Crocidura viaria isolate 328 thyrotropin (THY) gene, intron
Crocidura viaria isolate 328 thyrotropin (THY) gene, intron
gi|253317878|gb|FJ486582.1|

Nucleotide
Hypentelium roanokense cytochrome b (cytb) gene, partial cds; mitochondrial gene...
Hypentelium roanokense cytochrome b (cytb) gene, partial cds; mitochondrial gene for mitochondrial product
gi|28201427|gb|AF454910.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002197081	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 15, 2024)	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

SCV002197081

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 15, 2024)

germline

clinical testing

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

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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 Invitae, SCV002197081.3

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

Description

This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 217 of the TMEM231 protein (p.Pro217Ser). This variant is present in population databases (rs778407563, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with TMEM231-related conditions. ClinVar contains an entry for this variant (Variation ID: 1417661). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

#	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: Mar 16, 2024

ClinVar

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