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NM_001271208.2(NEB):c.1899A>T (p.Arg633Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Mar 14, 2019)
Last evaluated:
Feb 20, 2019
Accession:
VCV000331532.3
Variation ID:
331532
Description:
single nucleotide variant
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NM_001271208.2(NEB):c.1899A>T (p.Arg633Ser)

Allele ID
282185
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q23.3
Genomic location
2: 151692360 (GRCh38) GRCh38 UCSC
2: 152548874 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_004543.5:c.1899A>T NP_004534.3:p.Arg633Ser missense
LRG_202t1:c.1899A>T
LRG_202:g.47128A>T
... more HGVS
Protein change
R633S
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00066
The Genome Aggregation Database (gnomAD), exomes 0.00056
The Genome Aggregation Database (gnomAD) 0.00035
Exome Aggregation Consortium (ExAC) 0.00052
1000 Genomes Project 0.00160
Links
ClinGen: CA1911395
dbSNP: rs77826191
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000283474.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Feb 20, 2019 RCV000494281.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NEB - - GRCh38
GRCh37
1939 2475

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Nemaline Myopathy, Recessive
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000417038.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Apr 19, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000581729.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R633S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R633S ... (more)
Likely benign
(Feb 20, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001018403.1
Submitted: (Mar 14, 2019)
Evidence details

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 Dec 17, 2019