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NM_001077418.3(TMEM231):c.140-28C>G

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Mar 26, 2018)
Last evaluated:
Sep 7, 2017
Accession:
VCV000257329.1
Variation ID:
257329
Description:
single nucleotide variant
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NM_001077418.3(TMEM231):c.140-28C>G

Allele ID
255874
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q23.1
Genomic location
16: 75556001 (GRCh38) GRCh38 UCSC
16: 75589899 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.75556001G>C
NC_000016.9:g.75589899G>C
NM_001077416.2:c.271C>G NP_001070884.2:p.Arg91Gly missense
... more HGVS
Protein change
R91G
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00339 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00416
The Genome Aggregation Database (gnomAD), exomes 0.00199
Trans-Omics for Precision Medicine (TOPMed) 0.00029
1000 Genomes Project 0.00339
The Genome Aggregation Database (gnomAD) 0.00019
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00033
Links
dbSNP: rs375353411
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Sep 7, 2017 RCV000248641.3
Benign 1 criteria provided, single submitter May 4, 2017 RCV000544987.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TMEM231 - - GRCh38
GRCh37
68 123

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics
Accession: SCV000306339.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jun 21, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000597499.1
Submitted: (Jul 05, 2017)
Evidence details
Benign
(May 04, 2017)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 20
Meckel syndrome, type 11
Allele origin: germline
Invitae
Accession: SCV000652862.1
Submitted: (Oct 05, 2017)
Evidence details
Benign
(Sep 07, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000714479.1
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)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Aug 30, 2019