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NM_001008537.3(NEXMIF):c.3555G>T (p.Gly1185=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000474069.6
Variation ID:
474069
Description:
single nucleotide variant
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NM_001008537.3(NEXMIF):c.3555G>T (p.Gly1185=)

Allele ID
471732
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq13.3
Genomic location
X: 74741002 (GRCh38) GRCh38 UCSC
X: 73960837 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.73960837C>A
NC_000023.11:g.74741002C>A
NM_001008537.3:c.3555G>T MANE Select NP_001008537.1:p.Gly1185= synonymous
NG_027726.1:g.189451G>T
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:74741001:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00583 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00009
The Genome Aggregation Database (gnomAD), exomes 0.00109
Exome Aggregation Consortium (ExAC) 0.00103
1000 Genomes Project 0.00583
Trans-Omics for Precision Medicine (TOPMed) 0.00106
The Genome Aggregation Database (gnomAD) 0.00073
Links
ClinGen: CA10454932
dbSNP: rs142714242
Varsome
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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 Dec 2, 2020 RCV000712139.4
Likely benign 1 criteria provided, single submitter Jun 21, 2016 RCV000720214.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NEXMIF Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
475 612

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 21, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842562.1
Submitted: (Aug 31, 2018)
Evidence details
Likely benign
(Jun 21, 2016)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000851091.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000653822.5
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

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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

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

Text-mined citations for rs142714242...

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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