NM_153704.6(TMEM67):c.313-13del AND multiple conditions

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 18, 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:: RCV002132116.8

Allele description [Variation Report for NM_153704.6(TMEM67):c.313-13del]

NM_153704.6(TMEM67):c.313-13del

Gene:

TMEM67:transmembrane protein 67 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8q22.1

Genomic location:

Preferred name:

NM_153704.6(TMEM67):c.313-13del

HGVS:

NC_000008.11:g.93758470del
NG_009190.1:g.8627del
NM_001142301.1:c.-61-17del
NM_153704.6:c.313-13delMANE SELECT
LRG_688t2:c.-61-17del
LRG_688:g.8627del
NC_000008.10:g.94770691del
NC_000008.10:g.94770698del

Links:

dbSNP: rs367575555

NCBI 1000 Genomes Browser:

rs367575555

Molecular consequence:

NM_001142301.1:c.-61-17del - intron variant - [Sequence Ontology: SO:0001627]
NM_153704.6:c.313-13del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Familial aplasia of the vermis
Synonyms:: CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Cerebelloparenchymal disorder 4; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300

Name:: Meckel-Gruber syndrome
Synonyms:: DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Dysencephalia splachnocystica
Identifiers:: MONDO: MONDO:0018921; MedGen: C0265215; OMIM: PS249000

Recent activity

Clear Turn Off Turn On

Vicia villosa subsp. varia voucher Alevcan KAPLAN internal transcribed spacer 1,...
Vicia villosa subsp. varia voucher Alevcan KAPLAN internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|1778222766|gb|MN733439.1|

Nucleotide
Vicia villosa subsp. varia voucher YN2004_414 ribulose-1,5-bisphosphate carboxyl...
Vicia villosa subsp. varia voucher YN2004_414 ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL) gene, partial cds; chloroplast
gi|1587105295|gb|MH548258.1|

Nucleotide
Homo sapiens mRNA for SYMPK variant protein, partial cds, clone: fh12484
Homo sapiens mRNA for SYMPK variant protein, partial cds, clone: fh12484
gi|68533074|dbj|AB210010.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002403195	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 18, 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

SCV002403195

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 18, 2024)

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, SCV002403195.4

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

#	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

ClinVar

Relating variation to medicine