Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_153704.6(TMEM67):c.25G>A (p.Val9Met)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 30, 2020
Accession:
VCV000193507.5
Variation ID:
193507
Description:
single nucleotide variant
Help

NM_153704.6(TMEM67):c.25G>A (p.Val9Met)

Allele ID
190671
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q22.1
Genomic location
8: 93754939 (GRCh38) GRCh38 UCSC
8: 94767167 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.94767167G>A
NC_000008.11:g.93754939G>A
NM_153704.6:c.25G>A MANE Select NP_714915.3:p.Val9Met missense
... more HGVS
Protein change
V9M
Other names
-
Canonical SPDI
NC_000008.11:93754938:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00200 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00045
Exome Aggregation Consortium (ExAC) 0.00055
The Genome Aggregation Database (gnomAD) 0.00213
Trans-Omics for Precision Medicine (TOPMed) 0.00192
1000 Genomes Project 0.00200
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00254
Links
ClinGen: CA200630
dbSNP: rs199961375
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Jul 31, 2017 RCV000173581.3
Benign 1 criteria provided, single submitter Nov 30, 2020 RCV000860917.3
Benign 1 criteria provided, single submitter May 28, 2019 RCV000988093.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TMEM67 - - GRCh38
GRCh37
352 384

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 14, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000224705.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 1
Allele origin: unknown
Mendelics
Accession: SCV001137675.1
Submitted: (Oct 22, 2019)
Evidence details
Likely benign
(Jul 31, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000730171.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Nov 30, 2020)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome
Meckel-Gruber syndrome
Allele origin: germline
Invitae
Accession: SCV001001098.3
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TMEM67 - - - -

Text-mined citations for rs199961375...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 14, 2021